Café au lait spots	Developmental hereditary disorder	Genetic disorder of skin pigmentation	Multiple malformation syndrome with facial defects as major feature	Retinitis pigmentosa
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Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder)
	Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
	Friedman Goodman syndrome FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.
	syndroom van faciale dysmorfie, anorexie, cachexie en afwijkingen van oog en huid
	syndroom van congenitale afwijking van aangezicht, anorexie, cachexie en afwijkingen van oog en huid FACES-syndroom

Id	782949007
Status	Primitive

Associated morphology	Pigment alteration
Finding site	Skin structure
Occurrence	Congenital

Associated morphology	Dystrophy
Finding site	Retinal structure
Occurrence	Congenital

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified