414673004: Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2529711019 Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2533142015 De Sanctis-Cacchione syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2536925015 Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2536926019 Xerodermic idiocy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

298991000052115 de Sanctis-Cacchiones syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
de Sanctis-Cacchiones syndrom	Is a	Neurologic xeroderma pigmentosum (disorder)	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Is a	mental retardation	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Is a	Congenital hypoplasia of gonad	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Is a	Reproductive system hereditary disorder	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Is a	Short stature disorder	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Finding site	Gonadal structure	false	Inferred relationship	Some	1
de Sanctis-Cacchiones syndrom	Due to	Xeroderma pigmentosum	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Occurrence	Congenital	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	1
de Sanctis-Cacchiones syndrom	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
de Sanctis-Cacchiones syndrom	Finding site	Gonadal structure	false	Inferred relationship	Some	1
de Sanctis-Cacchiones syndrom	Associated morphology	kongenital hypoplasi	false	Inferred relationship	Some	1
de Sanctis-Cacchiones syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
de Sanctis-Cacchiones syndrom	Associated morphology	Hypoplasia	false	Inferred relationship	Some	2
de Sanctis-Cacchiones syndrom	Finding site	Gonadal structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)