autosomaal dominante hereditaire aandoening
congenitale anomalie van chromosomenpaar 12
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ulnair-mammair syndroom (aandoening)
ulnair-mammair syndroom
'ulnary-mammary'-syndroom
UMS
syndroom van Schinzel
Schinzel-syndroom
Ulnar mammary syndrome
Schinzel syndrome
Ulnar-mammary syndrome
An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations.
Id700211007
StatusPrimitive
Associated morphologycellulaire en/of subcellulaire afwijking
Finding sitechromosomenpaar 12
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3138
SNOMED CT to ICD-10 extended map
TargetQ71.8
RuleTRUE
AdviceALWAYS Q71.8
CorrelationSNOMED CT source code to target map code correlation not specified