771470001: syndrome de Jawad (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\syndrome de Jawad
• \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\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de Jawad
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\syndrome de Jawad
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de Jawad
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de Jawad
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de Jawad
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\syndrome de Jawad
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de Jawad
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\syndrome de Jawad
• \Disease\trouble du développement\Developmental hereditary disorder\syndrome de Jawad
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\syndrome de Jawad
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\syndrome de Jawad

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1003121000172110	syndrome de Jawad	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3706350010	Jawad syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706351014	Jawad syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
770761000241114	syndrome de Jawad (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3706352019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white cafe au lait-like spots on the skin of hands and feet are also associated. There is evidence this disease is caused by homozygous mutation in the RBBP8 gene on chromosome 18q11.2.	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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