autosomaal recessieve hereditaire aandoening	congenitale hypotrichose	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis	syndactylie	verstandelijke beperking
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syndroom van hypotrichose en verstandelijke beperking Lopes-type (aandoening)
	syndroom van hypotrichose en verstandelijke beperking Lopes-type
	syndroom van hypotrichose en verstandelijke handicap type Lopes syndroom van hypotrichose en mentale retardatie type Lopes syndroom van Lopes-Marques de Faria
	Hypotrichosis and intellectual disability syndrome Lopes type
	Lopes Marques de Faria syndrome
	Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.

Id	723365002
Status	Primitive

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

Associated morphology	abnormaal gefuseerde structuur
Finding site	structuur van digitus van hand of voet
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q84.0
Term	Congenitale alopecia

Target	F79.9
Term	Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen

SNOMED CT to Orphanet simple map

2266

SNOMED CT to ICD-10 extended map

Target	Q84.0
Rule	TRUE
Advice	ALWAYS Q84.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified