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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability Miles-Carpenter type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability Miles-Carpenter type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Miles-Carpenter type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability Miles-Carpenter type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability Miles-Carpenter type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability Miles-Carpenter type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\X-linked intellectual disability Miles-Carpenter type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability Miles-Carpenter type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability Miles-Carpenter type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\X-linked intellectual disability Miles-Carpenter type

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3314665018	X-linked intellectual disability Miles Carpenter type	en	Synonym	Active	Case sensitive	SNOMED CT core
3314667014	X-linked intellectual disability Miles-Carpenter type	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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