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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
5401982010 Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by 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
5401983017 Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterised by 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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a Microcephalus 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 Mental retardation 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 false 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 false 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 false 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
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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