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719138006: X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

Status: current, Primitive. 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 Case sensitive SNOMED CT core
3315140014 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive 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 Finding site Elbow joint structure true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Valgus deformity true Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Interprets Intellectual ability true Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Has interpretation Impaired true Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Has interpretation Impaired true Inferred relationship Some 4
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome 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 Is a Congenital cubitus valgus true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Intellectual disability false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Congenital malrotation of limb false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Congenital anomaly of joint false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Face structure true Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Congenital valgus deformity false Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Elbow joint structure false Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Finding site Face structure false Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a Intellectual disability true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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