360500002: Henck-Assman disease (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

476337016 Henck-Assman disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

740544019 Henck-Assman disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1456211000005117 Henck-Assmans sygdom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Henck-Assmans sygdom	Is a	A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	false	Inferred relationship	Some
Henck-Assmans sygdom	Finding site	Bone structure	false	Inferred relationship	Some	1
Henck-Assmans sygdom	Occurrence	Congenital	false	Inferred relationship	Some
Henck-Assmans sygdom	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Henck-Assmans sygdom	Finding site	Bone structure	false	Inferred relationship	Some	1
Henck-Assmans sygdom	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Henck-Assmans sygdom	Occurrence	Congenital	false	Inferred relationship	Some	2
Henck-Assmans sygdom	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Henck-Assmans sygdom	Finding site	Bone structure	false	Inferred relationship	Some	2

Inbound Relationships

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)