X-linked dyskeratosis congenita	X-linked recessive hereditary disease
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Hoyeraal-Hreidarsson syndrome (disorder)
	Hoyeraal-Hreidarsson syndrome
	A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
	syndroom van progressieve pancytopenie, immunodeficiëntie en cerebellaire hypoplasie
	progressieve pancytopenie-immuundeficiëntie-cerebellaire hypoplasie-syndroom syndroom van progressieve pancytopenie, immuundeficiëntie en cerebellaire hypoplasie syndroom van Hoyeraal-Hreidarsson

Id	707276009
Status	Primitive

Associated morphology	Dyskeratosis
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified