312566002: Multisystem disorder C-D (navigational concept)

SNOMED CT Concept\Special concept\Navigational concept\Multisystem disorder C-D

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

456312010 Multisystem disorder C-D en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1187872016 Multisystem disorder C-D (navigational concept) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multisystem disorder C-D	Is a	multisystemsygdom	false	Inferred relationship	Some
Multisystem disorder C-D	Is a	Navigational concept	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Coffin-Siris syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
de Barsy-syndrom	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Chronic infantile neurological, cutaneous and articular syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Chédiak-Higashi syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Cogan's syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Cerebro-costo-mandibular syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Chronic fatigue syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Dyskeratosis congenita	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
DiGeorges syndrom	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some
Costello syndrome	Is a	False	Multisystem disorder C-D	Inferred relationship	Some

Reference Sets