Autosomal dominant hereditary disorder	Congenital alopecia	Hypoplasia of thumb	Inherited cutaneous hyperpigmentation	Multiple malformation syndrome with limb defect as major feature	Short stature disorder
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Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)
	Thumb deformity, alopecia, pigmentation anomaly syndrome
	Sparse hair, short stature, skin anomalies syndrome
	A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
	syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie
	syndroom van deformiteit van duim, alopecia en pigmentatie-anomalie

Id	771182002
Status	Primitive

Associated morphology	Absence
Finding site	Hair structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Thumb structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hyperpigmentation
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified