Autosomal recessive hereditary disorder	Developmental hereditary disorder	Intellectual disability	Microcephaly	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
	A rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.
	syndroom van microcefalie, kleine gestalte, verstandelijke beperking en faciale dysmorfie
	syndroom van microcefalie, kleine gestalte, verstandelijke handicap en faciale dysmorfie syndroom van microcefalie, kleine gestalte, mentale retardatie en faciale dysmorfie

Id	771074000
Status	Primitive

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

Has interpretation	Below reference range
Interprets	Height / growth measure

Has interpretation	Below reference range
Interprets	Head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified