716112005: Microcephaly with deafness and intellectual disability syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly with deafness and intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly with deafness and intellectual disability syndrome (disorder)

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
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

Expanded Value Set

This concept is not in any reference sets

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