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719012009: X-linked intellectual disability Miles Carpenter type (disorder)


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
3314664019 X-linked intellectual disability Miles Carpenter type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314665018 X-linked intellectual disability Miles Carpenter type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314667014 X-linked intellectual disability Miles-Carpenter type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5155246013 Disorder with characteristics of severe intellectual deficit, microcephaly, exotropia and low digital arches. It has been described in four male members of one family. Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family. Transmission is X-linked and the causative gene has been mapped to Xq13-q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
876531000172115 déficience intellectuelle liée à l'X type Miles-Carpenter fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
902131000172111 intellectuele achterstand, X-gebonden, Miles-Carpenter-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked intellectual disability Miles Carpenter type (disorder) Is a retard mental false Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Is a Congenital malformation syndrome (disorder) true Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
X-linked intellectual disability Miles Carpenter type (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked intellectual disability Miles Carpenter type (disorder) Is a Intellectual disability true Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked intellectual disability Miles Carpenter type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked intellectual disability Miles Carpenter type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
X-linked intellectual disability Miles Carpenter type (disorder) Has interpretation Impaired true Inferred relationship Some 2
X-linked intellectual disability Miles Carpenter type (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
X-linked intellectual disability Miles Carpenter 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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