312572002: Multisystem disorder O-P (navigational concept)

SNOMED CT Concept\Special concept\Navigational concept\Multisystem disorder O-P

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

456318014 Multisystem disorder O-P en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1187878017 Multisystem disorder O-P (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 O-P	Is a	multisystemsygdom	false	Inferred relationship	Some
Multisystem disorder O-P	Is a	Navigational concept	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pulmonic stenosis and congenital nephrosis	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Pachydermoperiostosis - familial	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Rabson-Mendenhall syndrome	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Robin sequence	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Oculo-palato-digital syndrome	Is a	False	Multisystem disorder O-P	Inferred relationship	Some
Oculomandibular dysostosis	Is a	False	Multisystem disorder O-P	Inferred relationship	Some

This concept is not in any reference sets