Autosomal recessive hereditary disorder	Brachydactyly	Congenital kyphoscoliosis	Congenital microcephaly	Developmental hereditary disorder	Genetic intellectual disability	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature	Short stature disorder
\|	\|	\|	\|	\|	\|	\|	\|	\|

Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
	Microcephalus with brachydactyly and kyphoscoliosis syndrome
	Microcephaly with brachydactyly and kyphoscoliosis syndrome Viljoen Kallis Voges syndrome
	Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.

Id	719378009
Status	Primitive

Associated morphology	Anteroposterior abnormal curvature
Finding site	Musculoskeletal structure of spine
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Abnormal smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

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

Associated morphology	Lateral abnormal curvature
Finding site	Musculoskeletal structure of spine
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Birth head circumference

Has interpretation	Below reference range
Interprets	Body height

Has interpretation	Impaired
Interprets	Adaptation behavior

Has interpretation	Impaired
Interprets	Intellectual ability

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

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