Autosomal recessive hereditary disorder	Developmental hereditary disorder	Genetic intellectual disability	Multiple malformation syndrome with facial defects as major feature
\|	\|	\|	\|

Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)
	Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome
	A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.

Id	773621003
Status	Primitive

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

Has interpretation	Impaired
Interprets	Intellectual ability

Has interpretation	Impaired
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified