Autosomal recessive hereditary disorder	Combined immunodeficiency disease	Congenital absence of thumb	Congenital anomaly of musculoskeletal system	Congenital immunodeficiency disease	Congenital malformation syndromes associated with short stature	Developmental hereditary disorder	Disorder of skeletal system	Hereditary disorder of immune system	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with limb defect as major feature
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Absent thumb with short stature and immunodeficiency syndrome (disorder)
	Absent thumb with short stature and immunodeficiency syndrome
	An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
	syndroom van afwezige digitus I, kleine gestalte en immunodeficiëntie
	syndroom van afwezige duim, kleine gestalte en immunodeficiëntie

Id	719685004
Status	Primitive

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

Associated morphology	Aplasia
Finding site	Entire thumb
Occurrence	Congenital
Pathological process	Pathological developmental process

Pathological process

Abnormal immune process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	D82.8
Rule	TRUE
Advice	ALWAYS D82.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1
Correlation	SNOMED CT source code to target map code correlation not specified