autosomaal dominante hereditaire aandoening	congenitale hypotrichose	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis	rizomele dysplasie	spondylo-epimetafysaire dysplasie
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syndroom van spondylo-epimetafysaire dysplasie en hypotrichose (aandoening)
	syndroom van spondylo-epimetafysaire dysplasie en hypotrichose
	syndroom van SEMD en hypotrichose
	Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
	Whyte syndrome
	A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.

Id	773300008
Status	Primitive

Associated morphology	hypoplasie
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	dysplasie
Finding site	botstructuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	onder referentiebereik
Interprets	Limb length

Has interpretation	onder referentiebereik
Interprets	lengtemeting van lichaam

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

168443

SNOMED CT to ICD-10 extended map

Target	Q77.7
Rule	TRUE
Advice	ALWAYS Q77.7 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q84.0
Rule	TRUE
Advice	ALWAYS Q84.0
Correlation	SNOMED CT source code to target map code correlation not specified