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722061006: syndrome oculo-ostéo-cutané (trouble)


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
3330427016 Oculoosteocutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330428014 Oculoosteocutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
758161000241113 syndrome oculo-ostéo-cutané (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
925551000172110 syndrome oculo-ostéo-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3330429018 This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. 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
Oculoosteocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 2
Oculoosteocutaneous syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Oculoosteocutaneous syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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