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719162001: syndroom van radio-ulnaire synostose met microcefalie en scoliose (aandoening)


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
6720981000146115 syndroom van radio-ulnaire synostose met microcefalie en scoliose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6720991000146118 syndroom van radio-ulnaire synostose met microcefalie en scoliose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6721011000146117 Tsukahara-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6721021000146110 syndroom van Tsukahara nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8083451000146114 Giuffrè-Tsukahara-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8083461000146112 syndroom van Giuffrè-Tsukahara nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a microcefalie 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 mentale retardatie 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 congenitale afwijkende fusie 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 congenitale kleinheid 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 congenitale afwijkende fusie 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 congenitale kleinheid 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 congenitale afwijkende fusie 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

This concept is not in any reference sets

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