Auditory system hereditary disorder	Autosomal dominant hereditary disorder	Brachymesophalangia	Congenital abnormality of external ear	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature
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Cryptomicrotia brachydactyly syndrome (disorder)
	Cryptomicrotia brachydactyly syndrome
	Tonoki Ohura Niikawa syndrome Cryptomicrotia, brachydactyly, excess fingertip arch syndrome
	This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988.
	syndroom van cryptomicrotie en brachydactylie

Id	725096002
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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