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Terminology chevron_right Concepts chevron_right 128190004

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Component

128190004

The component that hold information about this concept.

Fully Specified Name (FSN)

Inherited metabolic disorder of nervous system (disorder)

Shortest Term

Inherited metabolic disorder of nervous system

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Inherited metabolic disorder of nervous system (disorder)

SCTID: 128190004, Defined, Active

128190004|Inherited metabolic disorder of nervous system (disorder)|

en Inherited metabolic disorder of nervous system
en Inherited metabolic disorder of nervous system (disorder)

Expression

128190004 |Inherited metabolic disorder of nervous system (disorder)|
 === 363235000 |Hereditary disorder of nervous system (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
206413012 - Inherited metabolic disorder of nervous system (en) View
206413012	en	Synonym (core metadata concept)	Inherited metabolic disorder of nervous system	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
732153013 - Inherited metabolic disorder of nervous system (disorder) (en) View
732153013	en	Fully specified name (core metadata concept)	Inherited metabolic disorder of nervous system (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (697004026) - 128190004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (697005025) - 128190004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (163253020) - 128190004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (163254025) - 128190004 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1366554003 View
1366554003	Congenital myasthenic syndrome with glycosylation defect due to alg14 udp-n-acetylglucosaminyltransferase subunit gene mutation (disorder)	Congenital myasthenic syndrome with glycosylation defect due to alg14 gene mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1360070001 View
1360070001	Spastic paraparesis, cataracts, speech delay syndrome (disorder)	Fatty acyl-coa reductase 1 superactivity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1359952006 View
1359952006	Aromatic l-amino acid decarboxylase deficiency disorder (disorder)	Aromatic l-amino acid decarboxylase deficiency disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1340040004 View
1340040004	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder)	Acute reversible leucoencephalopathy due to slc13a3 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1340174002 View
1340174002	Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)	Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1332382002 View
1332382002	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Commad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1300128003 View
1300128003	Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)	Mthfs-related developmental delay, microcephaly, short stature, epilepsy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1284855000 View
1284855000	Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder)	Serine biosynthesis pathway deficiency, infantile/juvenile form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1279890001 View
1279890001	Multiple mitochondrial dysfunctions syndrome type 5 (disorder)	Isca1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1279891002 View
1279891002	Multiple mitochondrial dysfunctions syndrome type 6 (disorder)	Pmpcb deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1260128008 View
1260128008	Tryptophanyl trna synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder)	Mitochondrial tryptophanyl-trna synthetase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1255323007 View
1255323007	Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	Spastic ataxia, dysarthria due to glutaminase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237417007 View
1237417007	Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)	Congenital disorder of glycosylation type 1z	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237418002 View
1237418002	Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)	Asct1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237514002 View
1237514002	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237619001 View
1237619001	Fatty acyl-coenzyme a reductase 1 deficiency (disorder)	Far1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1251446004 View
1251446004	Nad(p)hx dehydratase deficiency (disorder)	Carkd deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1251447008 View
1251447008	Nad(p)hx epimerase deficiency (disorder)	Nad(p)hx epimerase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1234819007 View
1234819007	Limb girdle muscular dystrophy due to protein o-mannose kinase deficiency (disorder)	Limb girdle muscular dystrophy due to pomk deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1236805005 View
1236805005	Mitochondrial enoyl coenzyme a reductase protein-associated neurodegeneration syndrome (disorder)	Mepan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1236807002 View
1236807002	Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder)	Encephalopathy due to mitochondrial and peroxisomal fission defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1230273004 View
1230273004	Megaconial congenital muscular dystrophy (disorder)	Congenital megaconial myopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1220574003 View
1220574003	Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder)	Congenital disorder of glycosylation type 2l	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1220595008 View
1220595008	Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222658006 View
1222658006	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder)	Bachmann bupp syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222662000 View
1222662000	Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder)	Neonatal epileptic encephalopathy due to glutaminase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217212009 View
1217212009	Mitochondrial pyruvate carrier deficiency (disorder)	Mitochondrial pyruvate carrier deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208486005 View
1208486005	Multiple mitochondrial dysfunctions syndrome type 2 (disorder)	Bola3 (bola family member 3) deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208620009 View
1208620009	Multiple mitochondrial dysfunctions syndrome type 3 (disorder)	Multiple mitochondrial dysfunctions syndrome type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208621008 View
1208621008	Multiple mitochondrial dysfunctions syndrome type 4 (disorder)	Multiple mitochondrial dysfunctions syndrome type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208747005 View
1208747005	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)	Martsolf-like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208936008 View
1208936008	Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)	Elovl4-related neuro ichthyosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1186718008 View
1186718008	Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)	Coq4-related neonatal encephalomyopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187250005 View
1187250005	Seizures, scoliosis, macrocephaly syndrome (disorder)	Seizures, scoliosis, macrocephaly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172839002 View
1172839002	Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder)	Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172841001 View
1172841001	Combined oxidative phosphorylation defect type 30 (disorder)	Combined oxidative phosphorylation defect type 30	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172843003 View
1172843003	Combined oxidative phosphorylation defect type 29 (disorder)	Combined oxidative phosphorylation defect type 29	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172844009 View
1172844009	Combined oxidative phosphorylation defect type 27 (disorder)	Combined oxidative phosphorylation defect type 27	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1173035001 View
1173035001	Combined oxidative phosphorylation defect type 25 (disorder)	Combined oxidative phosphorylation defect type 25	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1173036000 View
1173036000	Combined oxidative phosphorylation defect type 23 (disorder)	Combined oxidative phosphorylation defect type 23	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
12246008 View
12246008	Acute neuronopathic gaucher's disease (disorder)	Gaucher disease type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782696001 View
782696001	Recessive mitochondrial ataxia syndrome (disorder)	Recessive mitochondrial ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782739000 View
782739000	Male emopamil-binding protein disorder with neurological defect (disorder)	Male emopamil-binding protein disorder with neurological defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782744007 View
782744007	Lipoic acid synthetase deficiency (disorder)	Lipoic acid synthetase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782757004 View
782757004	Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)	Asparagine synthetase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782771007 View
782771007	Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form (disorder)	Hội chứng suy giảm dna ty thể dạng thận não gan	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782772000 View
782772000	Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder)	Congenital disorder of glycosylation type 1u	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782886007 View
782886007	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783174004 View
783174004	Congenital muscular dystrophy with intellectual disability (disorder)	Congenital muscular dystrophy with intellectual disability	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783176002 View
783176002	Congenital muscular dystrophy with cerebellar involvement (disorder)	Congenital muscular dystrophy with cerebellar involvement	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783558004 View
783558004	Combined oxidative phosphorylation defect type 11 (disorder)	Combined oxidative phosphorylation defect type 11	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783734000 View
783734000	Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)	Hội chứng suy giảm dna ty thể, dạng gan não do thiếu dguok	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784346006 View
784346006	Navajo neurohepatopathy (disorder)	Navajo neuropathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
785303004 View
785303004	Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Multiple congenital anomalies, hypotonia, seizures syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770755007 View
770755007	Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)	Congenital disorder of glycosylation due to pigt deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771516000 View
771516000	Solute carrier family 35 member a2 congenital disorder of glycosylation (disorder)	Congenital disorder of glycosylation type 2m	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773415005 View
773415005	Contiguous abcd1 dxs1357e deletion syndrome (disorder)	Hội chứng xóa abcd1 dxs1357e liền kề	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773643006 View
773643006	Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)	Multiple congenital anomalies, hypotonia, seizures syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773648002 View
773648002	Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Lethal neurodegenerative disorder due to copper transport defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774205007 View
774205007	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome (disorder)	Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763280005 View
763280005	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome (disorder)	Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763348005 View
763348005	Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)	Autosomal recessive cerebellar ataxia with late-onset spasticity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764456001 View
764456001	Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency (disorder)	Carbonic anhydrase va deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765401006 View
765401006	Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Mitochondrial dna depletion syndrome encephalomyopathic form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734434007 View
734434007	Pyridoxine-dependent developmental and epileptic encephalopathy (disorder)	Antiquitin deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723307008 View
723307008	Ethylmalonic encephalopathy (disorder)	Ethylmalonic encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723557004 View
723557004	Thiamine-responsive encephalopathy (disorder)	Thiamine-responsive encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724351008 View
724351008	Hereditary hyperekplexia (disorder)	Kok disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725296006 View
725296006	Mucolipidosis type iv (disorder)	Mucolipidosis type iv	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733086003 View
733086003	Pseudoprogeria syndrome (disorder)	Pseudoprogeria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733452000 View
733452000	Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder)	Leucoencephalopathy, dystonia, motor neuropathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733623005 View
733623005	Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733630004 View
733630004	Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Oxoglutaricaciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733636005 View
733636005	3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	3-phosphoglycerate dehydrogenase deficiency juvenile form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733637001 View
733637001	3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	3-phosphoglycerate dehydrogenase deficiency infantile form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720864008 View
720864008	Encephalopathy due to prosaposin deficiency (disorder)	Combined saposin deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722212004 View
722212004	Severe x-linked mitochondrial encephalomyopathy (disorder)	Severe x-linked mitochondrial encephalomyopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722762005 View
722762005	Ganglioside gm3 synthase deficiency (disorder)	Gm3 synthase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717053007 View
717053007	Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)	Renal tubulopathy with encephalopathy and liver failure syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718210003 View
718210003	Deficiency of monoamine oxidase a (disorder)	Brunner syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718219002 View
718219002	Congenital lactic acidosis saguenay-lac-saint-jean type (disorder)	Leigh syndrome french-canadian type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
711409002 View
711409002	3-methylglutaconic aciduria type iv with sensorineural deafness, encephalopathy and leigh-like syndrome (disorder)	Megdel syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
699328003 View
699328003	Myoclonic epilepsy myopathy sensory ataxia (disorder)	Spinocerebellar ataxia with epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
396338004 View
396338004	Metachromatic leucodystrophy (disorder)	Mld	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5963005 View
5963005	Subacute neuronopathic gaucher's disease (disorder)	Juvenile gaucher disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16517004 View
16517004	Cerebral lipidosis (disorder)	Cerebral lipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16652001 View
16652001	Fabry's disease (disorder)	Fabry disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
23501004 View
23501004	Arginase deficiency (disorder)	Argininemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25362006 View
25362006	Phytanic acid storage disease (disorder)	Hmsn iv	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
30287008 View
30287008	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35691006 View
35691006	Combined deficiency of sialidase and beta galactosidase (disorder)	Galactosialidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
38795005 View
38795005	Sialidosis (disorder)	Sialidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42012007 View
42012007	Neuronal ceroid lipofuscinosis (disorder)	Cerebromacular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50967008 View
50967008	Gangliosidosis (disorder)	Gangliosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
52165006 View
52165006	Niemann-pick disease, type a (disorder)	Niemann-pick disease type a	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54954004 View
54954004	Aspartylglucosaminuria (disorder)	Aspartylglucosaminuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
58610003 View
58610003	Leber's optic atrophy (disorder)	Leber optic atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63246000 View
63246000	Cholestanol storage disease (disorder)	Cholestanolosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65389002 View
65389002	Adrenoleukodystrophy (disorder)	Ald	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
66521008 View
66521008	Deficiency of cerebroside-sulfatase (disorder)	Deficiency of cerebroside-sulfatase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86444004 View
86444004	Niemann-pick disease, type c, acute form (disorder)	Niemann-pick disease, type c, acute form	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
192782005 View
192782005	Galactosylceramide beta-galactosidase deficiency (disorder)	Krabbe disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237984008 View
237984008	Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Narp syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237988006 View
237988006	Nicotinamide adenine dinucleotide coenzyme q reductase deficiency (disorder)	Complex i deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238048001 View
238048001	Alpha-n-acetylgalactosaminidase deficiency (disorder)	Schindler disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238069004 View
238069004	Acyl-coa oxidase deficiency (disorder)	Pseudoadrenoleukodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
360416003 View
360416003	Glutaryl-coa dehydrogenase deficiency (disorder)	Glutaric acidemia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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ExtendedMap object (ece231c9-fa94-5d11-a249-ec02a4f5e492) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.9	TRUE	ALWAYS E88.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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