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721883006: syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en hypotonie (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
3326440010 Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326441014 Radioulnar synostosis with developmental delay and hypotonia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326442019 Der Kaloustian McIntosh Silver syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6720851000146116 syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en hypotonie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6720861000146118 syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en hypotonie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6720871000146112 syndroom van Der Kaloustian-McIntosh-Silver nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8534241000146116 syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en verminderde spiertonus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8534251000146118 Der Kaloustian-McIntosh-Silver-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323160015 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326446016 An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears). 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 developmental delay and hypotonia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Radioulnar synostosis false Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology congenitale afwijkende fusie false Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Structure of bone of forearm (body structure) false Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of radius (body structure) false Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 4
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 5
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Is a Congenital radioulnar synostosis true Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Finding site Bone structure of radius (body structure) true Inferred relationship Some 3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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