Auditory system hereditary disorder

Autosomal recessive hereditary disorder

Congenital anomaly of tooth

Congenital sensorineural hearing loss

Developmental hereditary disorder

Disorder of glycoprotein metabolism

Hereditary disorder of musculoskeletal system

Hereditary disorder of tooth

Intellectual disability

Metabolic bone disease

Multiple malformation syndrome with limb defect as major feature

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Temtamy preaxial brachydactyly syndrome (disorder)
	Temtamy preaxial brachydactyly syndrome
	A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26.
	syndroom van preaxiale brachydactylie Temtamy-type

Id	777998000
Status	Primitive

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

Finding site	Structure of auditory system
Occurrence	Congenital

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

Associated morphology	Abnormally short growth
Finding site	Digit structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

DHD Diagnosis thesaurus reference set

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