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719162001: Radioulnar synostosis with microcephaly and scoliosis 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
3315216014 Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315217017 Radioulnar synostosis with microcephaly and scoliosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315218010 Giuffre Tsukahara syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315219019 Tsukahara syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
895101000172115 syndrome de synostose radio-ulnaire-microcéphalie-scoliose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950681000172114 syndrome de Giuffré-Tsukahara fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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