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719011002: X-gebonden verstandelijke beperking Pai-type (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
3314661010 X-linked intellectual disability Pai type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314662015 X-linked intellectual disability Pai type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
12689441000146112 X-gebonden verstandelijke beperking Pai-type (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12740281000146110 X-gebonden mentale retardatie Pai-type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12740291000146112 X-gebonden verstandelijke beperking Pai-type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12740301000146111 X-gebonden verstandelijke handicap Pai-type nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3314663013 This syndrome has characteristics of the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome. 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
X-linked intellectual disability Pai type (disorder) Is a mentale retardatie false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability Pai type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
X-linked intellectual disability Pai type (disorder) Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Pai type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
X-linked intellectual disability Pai type (disorder) Has interpretation Impaired 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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