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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\X-linked intellectual disability Miles Carpenter type (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\X-linked intellectual disability Miles Carpenter type (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Miles Carpenter type (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\X-linked intellectual disability Miles Carpenter type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Miles Carpenter type (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Miles Carpenter type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\X-linked intellectual disability Miles Carpenter type (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\X-linked intellectual disability Miles Carpenter type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\X-linked intellectual disability Miles Carpenter type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\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
5401917012	X-linked mental retardation, Miles-Carpenter type is characterized by severe intellectual deficit, microcephaly, exotropia and low digital arches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401918019	X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
3314666017	X-linked mental retardation Miles-Carpenter type has 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
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
5401917012	X-linked mental retardation, Miles-Carpenter type is characterized by severe intellectual deficit, microcephaly, exotropia and low digital arches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401918019	X-linked mental retardation, Miles-Carpenter type is characterised by severe intellectual deficit, microcephaly, exotropia and low digital arches.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3435411001000118	Intelligenzminderung, X-chromosomale, Typ Miles-Carpenter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876531000172115	déficience intellectuelle liée à l'X type Miles-Carpenter	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
876531000172115	déficience intellectuelle liée à l'X type Miles-Carpenter	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435411001000118	Intelligenzminderung, X-chromosomale, Typ Miles-Carpenter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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