Autosomal recessive SCID (severe combined immunodeficiency disease)	Congenital anomaly of skeletal bone	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Severe combined immunodeficiency with low T- and B-cell numbers	Skeletal dysplasia
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Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)
	Short-limb skeletal dysplasia with severe combined immunodeficiency
	Immunodeficiency, short limb dwarfism syndrome Achondroplasia, severe combined immunodeficiency syndrome Achondroplasia-Swiss type agammaglobulinemia syndrome
	An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
	skeletdysplasie met korte ledematen en ernstige gecombineerde immunodeficiëntie
	skeletdysplasie met korte ledematen en ernstige gecombineerde immuundeficiëntie

Id	789777007
Status	Primitive

Finding site	Structure of immune system
Occurrence	Congenital
Pathological process	Abnormal immune process

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

Associated morphology	Morphologically abnormal structure
Finding site	Structure of metaphysis
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	D82.2
Rule	TRUE
Advice	ALWAYS D82.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified