Autosomal recessive hereditary disorder	Brachymetatarsia of fourth metatarsal	Chronic disease of musculoskeletal system	Chronic mental disorder	Developmental hereditary disorder	Global developmental delay	Hereditary disorder of musculoskeletal system	Intellectual disability	Multiple malformation syndrome with facial-limb defects as major feature	Spondyloepimetaphyseal disorder
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Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder)
	Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.
	syndroom van progressieve spondylo-epimetafysaire dysplasie, kleine gestalte, kort os metatarsi IV en verstandelijke beperking
	syndroom van progressieve spondylo-epimetafysaire dysplasie, kleine gestalte, kort vierde middenvoetsbeen en mentale retardatie syndroom van progressieve SEMD, kleine gestalte, kort os metatarsale IV en verstandelijke handicap

Id	1187303004
Status	Primitive

Clinical course

Has interpretation	Below reference range
Interprets	Body height measure

Associated morphology	Abnormally short growth
Finding site	Entire fourth metatarsal
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

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