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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with blindness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Ectodermal dysplasia with blindness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) survenue (attribut) congénital true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) localisation d'une constatation (attribut) Structure of eye proper (body structure) true Inferred relationship Some 1
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Digestive system hereditary 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) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Congenital anomaly of eye true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) Structure of eye proper (body structure) false Inferred relationship Some 7
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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