Autosomal recessive hereditary disorder	Congenital sensorineural hearing loss	Digestive system hereditary disorder	Disorder of digestive system specific to fetus OR newborn	Disorder of ear	Disorder of gastrointestinal tract	Hearing loss associated with syndrome	Hereditary hearing loss	Hereditary sensory neuropathy	Peripheral sensory neuropathy
\|	\|	\|	\|	\|	\|	\|	\|	\|	\|

Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
	Deafness, small bowel diverticulosis, neuropathy syndrome
	Groll Hirschowitz syndrome
	A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.

Id	733071009
Status	Primitive

Interprets

Finding site	Ear structure
Occurrence	Congenital

Finding site	Peripheral nerve structure
Occurrence	Congenital

Finding site	Gastrointestinal tract structure
Occurrence	Congenital

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	H90.5
Term	Gehoorverlies door perceptiestoornis, niet gespecificeerd

Target	G60.8
Term	Overige gespecificeerde hereditaire en idiopathische neuropathieën

SNOMED CT to ICD-10 extended map

Target	G60.8
Rule	TRUE
Advice	ALWAYS G60.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
Correlation	SNOMED CT source code to target map code correlation not specified