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75523000: Congenital hamartosis (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
hamartomatøs lidelse	Is a	Congenital disease	false	Inferred relationship	Some
hamartomatøs lidelse	Occurrence	Congenital	false	Inferred relationship	Some
hamartomatøs lidelse	Is a	Congenital hamartoma (disorder)	false	Inferred relationship	Some
hamartomatøs lidelse	Associated morphology	Hamartoma	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple lentigines syndrome (disorder)	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Centrofacial lentiginosis syndrome (disorder)	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Neurokutan melanose-sekvens	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Riley-Smiths syndrom	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Goltz' syndrom	Is a	False	hamartomatøs lidelse	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	hamartomatøs lidelse	Inferred relationship	Some
Moynahans syndrom	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Ruvalcaba-Myhres syndrom	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Maffucci syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Linear sebaceous nevus sequence	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Cowden syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Klippel-Trénaunay-Webers syndrom	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Gardner syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Turcot syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Cerebral-retinal arteriovenous aneurysm (disorder)	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Lhermitte-Duclos disease	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Vascular hamartoma of skin	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some
Sturge-Weber syndrome	Is a	False	hamartomatøs lidelse	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
125435017	Hamartosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
816143015	Congenital hamartosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2671536013	Congenital hamartosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2348231000005119	hamartomatøs lidelse	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)