1162976004: X-linked recessive hereditary disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4592775017 X-linked recessive hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4592776016 X-linked recessive hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4592775017 X-linked recessive hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4592776016 X-linked recessive hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked recessive hereditary disease	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Existential restriction modifier (core metadata concept)
Hemophilia B Leyden (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked common variable immunodeficiency due to SH3 domain containing kinase binding protein 1 deficiency (disorder)	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked combined immunodeficiency due to SASH3 deficiency	Is a	True	X-linked recessive hereditary disease	Inferred relationship	Existential restriction modifier (core metadata concept)

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This concept is not in any reference sets