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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) Is a 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) Is a Congenital cubitus valgus true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Mental retardation false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Congenital malrotation of limb false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Congenital anomaly of joint true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Associated morphology Congenital valgus deformity false Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Finding site Elbow joint structure false Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Finding site Elbow joint structure true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Associated morphology Valgus deformity true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Elbow joint deformity true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Arthropathy of elbow (disorder) true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a Congenital deformity of musculoskeletal system (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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