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716112005: syndroom van microcefalie, doofheid en verstandelijke beperking (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304775018 Microcephaly with deafness and intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304776017 Microcephaly with deafness and intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304777014 Kawashima Tsuji syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6739381000146112 syndroom van microcefalie, doofheid en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6739391000146114 syndroom van Kawashima-Tsuji nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494851000146114 syndroom van microcefalie, doofheid en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7577471000146111 syndroom van microcefalie, doofheid en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7577481000146113 syndroom van microcefalie, doofheid en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304778016 This syndrome has manifestations of microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. 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
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a microcefalie false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Hearing loss true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets Hearing true Inferred relationship Some 3
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets observatie betreffende functioneren false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 5
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site Brain structure false Inferred relationship Some 5
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Microcephaly with deafness and intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site Brain structure false Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 5
Microcephaly with deafness and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Finding site Head structure true Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 5
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Microcephaly with deafness and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 6
Microcephaly with deafness and intellectual disability syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Microcephaly with deafness and intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 7
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Congenital neurological disorder (disorder) false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Disorder of sensory function (disorder) false Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a Congenital hearing loss (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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