FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.21 | FHIR Version n/a User: [n/a]

724090001: Neuroectodermal endocrine syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3430530014 Neuroectodermal endocrine syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3430531013 Neuroectodermal endocrine syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3430532018 Oerter Friedman Anderson syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3430533011 This syndrome has characteristics of the combination of endocrine and neuroectodermal abnormalities. These abnormalities include low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four siblings from Myanmar. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3983331000052115 neuroektodermalt endokrint syndrom sv Synonym (core metadata concept) Active Entire term 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
neuroektodermalt endokrint syndrom	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
neuroektodermalt endokrint syndrom	Is a	Congenital ectodermal defect	false	Inferred relationship	Some
neuroektodermalt endokrint syndrom	Is a	Disorder of endocrine system	false	Inferred relationship	Some
neuroektodermalt endokrint syndrom	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
neuroektodermalt endokrint syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
neuroektodermalt endokrint syndrom	Finding site	Structure of endocrine system (body structure)	false	Inferred relationship	Some	2
neuroektodermalt endokrint syndrom	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
neuroektodermalt endokrint syndrom	Occurrence	Congenital	false	Inferred relationship	Some	3
neuroektodermalt endokrint syndrom	Finding site	Ectoderm structure	false	Inferred relationship	Some	3
neuroektodermalt endokrint syndrom	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
neuroektodermalt endokrint syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
neuroektodermalt endokrint syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
neuroektodermalt endokrint syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
neuroektodermalt endokrint syndrom	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
neuroektodermalt endokrint syndrom	Finding site	Ectoderm structure	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3430530014	Neuroectodermal endocrine syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3430531013	Neuroectodermal endocrine syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3430532018	Oerter Friedman Anderson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3430533011	This syndrome has characteristics of the combination of endocrine and neuroectodermal abnormalities. These abnormalities include low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four siblings from Myanmar.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3983331000052115	neuroektodermalt endokrint syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)