718226002: Wolf Hirschhorn 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 region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn syndrome (disorder)
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Wolf Hirschhorn 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\Wolf Hirschhorn 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\Wolf Hirschhorn syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Wolf Hirschhorn syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Wolf Hirschhorn 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\Wolf Hirschhorn syndrome (disorder)
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Wolf Hirschhorn syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Wolf Hirschhorn 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\Wolf Hirschhorn 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\Wolf Hirschhorn 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
3311588010	Wolf Hirschhorn syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311589019	Wolf Hirschhorn syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3311590011	Wolf-Hirschhorn syndrome is a developmental disorder with characteristics of typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Caused by a deletion in the short arm of the 4th chromosome (4p16.3 region), including at least part of the LETM1 and WHSC1 genes. Most cases are sporadic, but an unbalanced translocation may be inherited from a parent with a balanced rearrangement.	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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