Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Chronic disease of ear	Conductive hearing loss	Congenital microcephaly	Cutaneous mastocytosis	Decreased hearing	Developmental hereditary disorder	Hereditary disorder of the integument	Hereditary white blood cell disorder	Short stature disorder
\|	\|	\|	\|	\|	\|	\|	\|	\|	\|	\|

Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)
	Hennekam Beemer syndrome
	Cutaneous mastocytosis, short stature, hearing loss syndrome
	Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents.
	syndroom van cutane mastocytose, dwerggroei en gehoorverlies
	syndroom van cutane mastocytose, kleine gestalte en gehoorverlies

Id	722453009
Status	Primitive

Clinical course

Finding site

Has interpretation	Decreased
Interprets	Hearing

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

Has interpretation	Below reference range
Interprets	Height / growth measure

Associated morphology	Cutaneous mastocytosis
Finding site	Skin structure

Has interpretation	Below reference range
Interprets	Birth head circumference

Associated morphology	Mast cell abnormality
Finding site	Mast cell
Pathological process	Abnormal immune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q82.2
Rule	TRUE
Advice	ALWAYS Q82.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E34.3
Rule	TRUE
Advice	ALWAYS E34.3
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H90.2
Rule	TRUE
Advice	ALWAYS H90.2
Correlation	SNOMED CT source code to target map code correlation not specified