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205808005: Congenital malformation syndromes associated with short stature (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
315601014 Congenital malformation syndromes associated with short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591227011 Congenital malformation syndromes associated with short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
315601014 Congenital malformation syndromes associated with short stature en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
315601014 Congenital malformation syndromes associated with short stature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591227011 Congenital malformation syndromes associated with short stature (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
591227011 Congenital malformation syndromes associated with short stature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5881521000241114 syndromes de malformation associés à une petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5881521000241114 syndromes de malformation associés à une petite taille fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

102 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital malformation syndromes associated with short stature Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes associated with short stature Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes associated with short stature Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes associated with short stature Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes associated with short stature Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndromes associated with short stature Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndromes associated with short stature Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndromes associated with short stature Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital malformation syndromes associated with short stature Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Aarskog syndrome Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndrome associated with short stature NOS Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Aarskog syndrome Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Kabuki make-up syndrome Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Diastrophic dysplasia Is a False Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Hypochondroplasia Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Metatropic dysplasia (disorder) Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)
Brachyolmia (disorder) Is a True Congenital malformation syndromes associated with short stature Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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