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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
5402577010 Short stature-webbed neck-heart disease syndrome is characterized by 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
5402578017 Short stature-webbed neck-heart disease syndrome is characterised by 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
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 Only initial character case insensitive (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 Only initial character 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
5402577010 Short stature-webbed neck-heart disease syndrome is characterized by 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
5402578017 Short stature-webbed neck-heart disease syndrome is characterised by 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
3421171001000115 Kleinwuchs - Pterygium colli - Kardiopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421171001000115 Kleinwuchs - Pterygium colli - Kardiopathie 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
Short stature with webbed neck and congenital heart disease syndrome Is a Neck webbing (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Associated morphology Congenital webbing false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature with webbed neck and congenital heart disease syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature with webbed neck and congenital heart disease syndrome Finding site Skin structure of neck (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature with webbed neck and congenital heart disease syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with webbed neck and congenital heart disease syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with webbed neck and congenital heart disease syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with webbed neck and congenital heart disease syndrome Associated morphology Congenital webbing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Finding site Skin structure of neck (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature with webbed neck and congenital heart disease syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature with webbed neck and congenital heart disease syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with webbed neck and congenital heart disease syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature with webbed neck and congenital heart disease syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature with webbed neck and congenital heart disease syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature with webbed neck and congenital heart disease syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature with webbed neck and congenital heart disease syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature with webbed neck and congenital heart disease syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature with webbed neck and congenital heart disease syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with webbed neck and congenital heart disease syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature with webbed neck and congenital heart disease syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with webbed neck and congenital heart disease syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with webbed neck and congenital heart disease syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Short stature with webbed neck and congenital heart disease syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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