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719138006: X-linked intellectual disability with cubitus valgus and dysmorphism 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
3315139012 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315140014 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315141013 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777421017 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked 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
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) localisation d'une constatation (attribut) articulation du coude true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) morphologie associée (attribut) Valgus deformity (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Congenital cubitus valgus true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Congenital malrotation of limb false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Congenital anomaly of joint false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) morphologie associée (attribut) Congenital valgus deformity false Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) localisation d'une constatation (attribut) articulation du coude false Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism 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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