Autosomal recessive hereditary disorder	Developmental hereditary disorder	Short stature disorder
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Short stature due to primary acid labile subunit deficiency (disorder)
	Short stature due to primary acid labile subunit deficiency
	Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.
	kleine gestalte door primaire zuurlabiele subunitdeficiëntie
	kleine gestalte door primaire 'acid-labile subunit'-deficiëntie

Id	721074002
Status	Primitive

Pathological process

Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E34.3
Rule	TRUE
Advice	ALWAYS E34.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified