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Terminology chevron_right Concepts chevron_right 1162984000

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Component

1162984000

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked dominant hereditary disease (disorder)

Shortest Term

X-linked dominant hereditary disease

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

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

Summary

X-linked dominant hereditary disease (disorder)

SCTID: 1162984000, Primitive, Active

1162984000|X-linked dominant hereditary disease (disorder)|

en X-linked dominant hereditary disease
en X-linked dominant hereditary disease (disorder)

Expression

1162984000 |X-linked dominant hereditary disease (disorder)|
 <<< 128430005 |X-linked hereditary disease (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4592778015 - X-linked dominant hereditary disease (en) View
4592778015	en	Synonym (core metadata concept)	X-linked dominant hereditary disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
4592777013 - X-linked dominant hereditary disease (disorder) (en) View
4592777013	en	Fully specified name (core metadata concept)	X-linked dominant hereditary disease (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13902283024) - 1162984000 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128430005 View
128430005	X-linked hereditary disease (disorder)	X-linked hereditary disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1254654006 View
1254654006	X-linked intellectual disability, hypotonia, movement disorder syndrome (disorder)	X-linked intellectual disability, hypotonia, movement disorder syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197360001 View
1197360001	X-linked dominant erythropoietic protoporphyria (disorder)	X-linked dominant erythropoietic protoporphyria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172691004 View
1172691004	Chloride voltage-gated channel 4-related x-linked intellectual disability syndrome (disorder)	Raynaud claes syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172697000 View
1172697000	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability (disorder)	X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1010628009 View
1010628009	X-linked congenital generalized hypertrichosis (disorder)	Macias-flores garcia-cruz rivera syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784010006 View
784010006	Otopalatodigital syndrome spectrum disorder (disorder)	Opd (otopalatodigital) spectrum disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784352007 View
784352007	X-linked scapuloperoneal muscular dystrophy (disorder)	X-linked scapuloperoneal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771266007 View
771266007	Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Torticollis, keloids, cryptorchidism, renal dysplasia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773645004 View
773645004	Familial infantile gigantism (disorder)	Familial infantile gigantism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763347000 View
763347000	X-linked charcot-marie-tooth disease type 6 (disorder)	X-linked charcot-marie-tooth disease type 6	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763455008 View
763455008	X-linked charcot-marie-tooth disease type 1 (disorder)	X-linked charcot-marie-tooth disease type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
791000124107 View
791000124107	2-methyl-3-hydroxybutyric aciduria (disorder)	Hsd10 disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723581006 View
723581006	Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder)	Star syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724175002 View
724175002	Lisch epithelial corneal dystrophy (disorder)	Lisch epithelial corneal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733095006 View
733095006	Skeletal dysplasia brachydactyly syndrome (disorder)	Mononen karnes senac syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717768004 View
717768004	Alport syndrome x-linked (disorder)	Alport syndrome x-linked	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717945001 View
717945001	Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder)	Bresek syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718577005 View
718577005	X-linked intellectual disability atkin type (disorder)	Atkin flaitz syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719136005 View
719136005	X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder)	Ophn1 syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719827008 View
719827008	X-linked immunoneurologic disorder (disorder)	Woods black norbury syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719837003 View
719837003	X-linked dominant chondrodysplasia chassaing lacombe type (disorder)	X-linked dominant chondrodysplasia chassaing lacombe type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721879006 View
721879006	Microphthalmia with linear skin defect syndrome (disorder)	Midas syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715421009 View
715421009	Craniofrontonasal dysplasia (disorder)	Craniofrontonasal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717224002 View
717224002	X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Partington disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702356009 View
702356009	X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)	Ppm-x syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703389002 View
703389002	Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder)	Cask related intellectual disability	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
699300009 View
699300009	Oculofaciocardiodental syndrome (disorder)	Microphthalmia syndromic 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
448045004 View
448045004	Fragile x associated tremor ataxia syndrome (disorder)	Fragile x associated tremor ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
445257004 View
445257004	Nance-horan syndrome (disorder)	Nance-horan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
419097006 View
419097006	Danon disease (disorder)	Danon disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
398958000 View
398958000	Chondrodysplasia punctata, x-linked dominant type (disorder)	Happle syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
613003 View
613003	Fragile x syndrome (disorder)	Marker x syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
17608003 View
17608003	Child syndrome (disorder)	Child syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68618008 View
68618008	Rett's disorder (disorder)	Rett disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80651009 View
80651009	Aicardi's syndrome (disorder)	Aicardi syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205573006 View
205573006	Focal dermal hypoplasia (disorder)	Goltz syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
367520004 View
367520004	Incontinentia pigmenti syndrome (disorder)	Ito's 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 (5723d417-90a7-5bd5-8c2d-b69dd018a499) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	TRUE	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447638001 \|Map source concept cannot be classified with available data (foundation metadata concept)\|

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