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721073008: Short stature with webbed neck and congenital heart disease 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
3323365015 Al Gazali Aziz Salem syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323367011 Short stature with webbed neck and congenital heart disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323368018 Short stature with webbed neck and congenital heart disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323366019 This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. 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
Short stature with webbed neck and congenital heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Short stature with webbed neck and congenital heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Short stature with webbed neck and congenital heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Short stature with webbed neck and congenital heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Short stature with webbed neck and congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 2
Short stature with webbed neck and congenital heart disease syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Short stature with webbed neck and congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) Neck webbing true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) insuffisance staturale true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) Congenital webbing false Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) peau du cou false Inferred relationship Some 4
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Short stature with webbed neck and congenital heart disease syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Short stature with webbed neck and congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 5
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) Congenital webbing true Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) localisation d'une constatation (attribut) peau du cou true Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease 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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