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721208007: Ectodermal dysplasia with blindness 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
3332067015 Ectodermal dysplasia with blindness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332068013 Ectodermal dysplasia with blindness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332069017 Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
11844181000172116 syndrome de dysplasie ectodermique et cécité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4209901000172118 syndroom van ectodermale dysplasie en blindheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with blindness syndrome (disorder) Is a Congenital anomaly of eye true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a retard mental false Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Eye structure false Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Ectodermal dysplasia with blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia with blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Eye structure true Inferred relationship Some 1
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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