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Terminology chevron_right Concepts chevron_right 402772005

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Component

402772005

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive ichthyosis (disorder)

Shortest Term

Autosomal recessive ichthyosis

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

Autosomal recessive ichthyosis (disorder)

SCTID: 402772005, Defined, Active

402772005|Autosomal recessive ichthyosis (disorder)|

en Autosomal recessive ichthyosis
en Autosomal recessive ichthyosis (disorder)

Expression

402772005 |Autosomal recessive ichthyosis (disorder)|
 === 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
13059002 |Congenital ichthyosis of skin (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 26996000 |Hyperkeratosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181469002 |Entire skin (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 44138005 |Keratinization, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1781866015 - Autosomal recessive ichthyosis (en) View
1781866015	en	Synonym (core metadata concept)	Autosomal recessive ichthyosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1770696013 - Autosomal recessive ichthyosis (disorder) (en) View
1770696013	en	Fully specified name (core metadata concept)	Autosomal recessive ichthyosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3345093029) - 402772005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12084394026) - 402772005 -> 181469002 (363698007) View
363698007 \|Finding site (attribute)\|	181469002 \|Entire skin (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265019029) - 402772005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265020024) - 402772005 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4973123027) - 402772005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973124022) - 402772005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996540027) - 402772005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6147642026) - 402772005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525931027) - 402772005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10608584028) - 402772005 -> 26996000 (116676008) View
116676008 \|Associated morphology (attribute)\|	26996000 \|Hyperkeratosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2288101024) - 402772005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3345092023) - 402772005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028776027) - 402772005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2288100020) - 402772005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2640687025) - 402772005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2288102028) - 402772005 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2248938021) - 402772005 -> 13059002 (116680003) View
116680003 \|Is a (attribute)\|	13059002 \|Congenital ichthyosis of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
13059002 View
13059002	Congenital ichthyosis of skin (disorder)	Fish skin	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
890235002 View
890235002	Autosomal recessive epidermolytic ichthyosis (disorder)	Autosomal recessive epidermolytic ichthyosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205548006 View
205548006	Harlequin ichthyosis (disorder)	Harlequin fetus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
783551005 View
783551005	Ichthyosis, short stature, brachydactyly, microspherophakia syndrome (disorder)	15q26.3 microdeletion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763401009 View
763401009	Ichthyosis prematurity syndrome (disorder)	Congenital ichthyosis type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763404001 View
763404001	Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome (disorder)	Jagell, holmgren, hofer syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763768001 View
763768001	Autosomal recessive exfoliative ichthyosis (disorder)	Exfoliative ichthyosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763775000 View
763775000	Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)	Klick syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724277002 View
724277002	Congenital ichthyosis with hypotrichosis syndrome (disorder)	Congenital ichthyosis with hypotrichosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724278007 View
724278007	Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder)	Nisch syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724838009 View
724838009	Hereditary skin peeling syndrome (disorder)	Peeling skin syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725588002 View
725588002	Bathing suit ichthyosis (disorder)	Bathing suit ichthyosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732950006 View
732950006	Ichthyosis, oral and digital anomalies syndrome (disorder)	Clayton-smith donnai syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732952003 View
732952003	Congenital cataract ichthyosis syndrome (disorder)	Congenital cataract ichthyosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733097003 View
733097003	Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	Passwell goodman siprkowski syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718632004 View
718632004	Self-healing collodion baby (disorder)	Self-healing collodion baby	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722035007 View
722035007	Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	Mednik syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722385008 View
722385008	Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Cednik syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403780007 View
403780007	Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54336006 View
54336006	Ichthyosis linearis circumflexa (disorder)	Ichthyosis linearis circumflexa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
77817004 View
77817004	Neu-laxova syndrome (disorder)	Neu-laxova syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
312514006 View
312514006	Netherton's syndrome (disorder)	Netherton syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (4b7af316-71d7-58ef-95fa-da1e20c9e82e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.8	TRUE	ALWAYS Q80.8	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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