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720754008: syndroom van craniofaciale conodysplasie (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
3322011015 Craniofacial conodysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322012010 Craniofacial conodysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7020721000146117 syndroom van craniofaciale conodysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7020731000146115 craniofaciale conodysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7020741000146111 syndroom van craniofaciale conodysplasie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3322013017 This syndrome has characteristics of craniofacial dysplasia, cone-shaped physes of the hands and feet and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. 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
Craniofacial conodysplasia syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Congenital anomaly of face bones true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Congenital anomaly of skull true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Craniofacial conodysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Craniofacial conodysplasia syndrome (disorder) Finding site Bone structure of face false Inferred relationship Some 3
Craniofacial conodysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Craniofacial conodysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Craniofacial conodysplasia syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Craniofacial conodysplasia syndrome (disorder) Finding site Limb structure false Inferred relationship Some 4
Craniofacial conodysplasia syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 5
Craniofacial conodysplasia syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some 5
Craniofacial conodysplasia syndrome (disorder) Finding site Bone structure of cranium true Inferred relationship Some 3
Craniofacial conodysplasia syndrome (disorder) Is a Lesion of face false Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Craniofacial conodysplasia syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Craniofacial conodysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Craniofacial conodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniofacial conodysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Finding site Bone structure of face true Inferred relationship Some 2
Craniofacial conodysplasia syndrome (disorder) Finding site Limb structure true Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Craniofacial conodysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Craniofacial conodysplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a Congenital facial dysplasia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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