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719162001: Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315216014 Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3315217017 Radioulnar synostosis with microcephaly and scoliosis syndrome en Synonym Active Case insensitive SNOMED CT core
3315218010 Giuffre Tsukahara syndrome en Synonym Active Case sensitive SNOMED CT core
3315219019 Tsukahara syndrome en Synonym Active Case sensitive SNOMED CT core
3315220013 An extremely rare syndrome with characteristics of the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence Congenital true Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence Congenital true Inferred relationship Some 2
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 2
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Bone structure of radius and/or ulna false Inferred relationship Some 2
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Brain structure false Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Bone structure of radius true Inferred relationship Some 2
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Bone structure of ulna true Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence Congenital true Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Genetic disease true Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets Height / growth measure true Inferred relationship Some 5
Radioulnar synostosis with microcephaly and scoliosis syndrome Has interpretation Below reference range true Inferred relationship Some 6
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets Birth head circumference true Inferred relationship Some 6
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Structure of head true Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Congenital microcephaly true Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Has interpretation Below reference range true Inferred relationship Some 5
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets Intellectual ability true Inferred relationship Some 7
Radioulnar synostosis with microcephaly and scoliosis syndrome Has interpretation Impaired true Inferred relationship Some 7
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets Adaptation behaviour true Inferred relationship Some 8
Radioulnar synostosis with microcephaly and scoliosis syndrome Has interpretation Impaired true Inferred relationship Some 8
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Microcephalus false Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Radioulnar synostosis true Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Congenital anomaly of brain false Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Intellectual disability false Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Short stature disorder true Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a Scoliosis deformity of spine true Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology Lateral abnormal curvature true Inferred relationship Some 4
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Musculoskeletal structure of spine true Inferred relationship Some 4
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence Congenital false Inferred relationship Some 5
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence Congenital false Inferred relationship Some 6
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Some 5
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Bone structure of radius and/or ulna false Inferred relationship Some 5
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology Congenital smallness false Inferred relationship Some 6
Radioulnar synostosis with microcephaly and scoliosis syndrome Finding site Brain structure false Inferred relationship Some 6
Radioulnar synostosis with microcephaly and scoliosis 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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