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721843003: Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5402708016 A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402709012 A rare, genetic, multiple congenital anomalies syndrome characterised by growth retardation, alopecia, pseudoanodontia and ocular manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332176013 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332178014 Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332179018 GAPO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332180015 GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6237121000241113 syndrome de retard de croissance, alopécie, pseudoanodontie et atrophie optique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6237131000241110 syndrome GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650971000274114 Wachstumsverzögerung-Alopezie-Pseudoanodontie-Optikusatrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424071001000118 GAPO-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Autosomal recessive hereditary disorder true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Hereditary disorder of the integument true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital true Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital true Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology anomalie du développement false Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital false Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Skin structure false Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Congenital dysplasia false Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Ectoderm structure true Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology anomalie du développement false Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Skin structure false Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a retard mental false Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Short stature disorder true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Inherited optic neuropathy true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Hereditary disorder of nervous system false Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Hereditary disorder of the visual system false Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Face structure false Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital false Inferred relationship Some 6
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital true Inferred relationship Some 7
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Optic nerve structure false Inferred relationship Some 7
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Congenital dysplasia false Inferred relationship Some 6
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Ectoderm structure false Inferred relationship Some 6
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Intellectual disability false Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital true Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Occurrence Congenital true Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Optic nerve structure true Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Face structure true Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Dysplasia true Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Morphologically abnormal structure false Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Tooth structure false Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Digestive system hereditary disorder false Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Hair structure (body structure) true Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Developmental hereditary disorder true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Interprets Height / growth measure true Inferred relationship Some 6
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Hereditary disorder of tooth true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Malformation of teeth (disorder) true Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Interprets Tooth presence true Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Has interpretation Absent true Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site Dentition true Inferred relationship Some 7
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology Morphologically abnormal structure true Inferred relationship Some 7
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Interprets Intellectual ability true Inferred relationship Some 8
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Has interpretation Impaired true Inferred relationship Some 8
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Interprets Adaptation behavior (observable entity) true Inferred relationship Some 9
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Has interpretation Impaired true Inferred relationship Some 9
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Is a Genetic intellectual disability true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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