312574001: Multisystem disorder S-T (navigational concept)

SNOMED CT Concept\Special concept (special concept)\Navigational concept (navigational concept)\Multisystem disorder S-T

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

456320012 Multisystem disorder S-T en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1187880011 Multisystem disorder S-T (navigational concept) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

456320012 Multisystem disorder S-T en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

709258013 Multisystem disorder S-T (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1187880011 Multisystem disorder S-T (navigational concept) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

30121000077118 trouble multisystémique S-T fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

30121000077118 trouble multisystémique S-T fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multisystem disorder S-T	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Multisystem disorder S-T	Is a	Navigational concept (navigational concept)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
érythrodermie ichthyosiforme congénitale récessive	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
Schwartz-Jampel syndrome	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
Sarcoidosis	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
SAPHO syndrome	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
Shprintzen syndrome	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
Systemic sclerosis	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)
Shwachman syndrome	Is a	False	Multisystem disorder S-T	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets