FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

766249007: syndroom van doofheid, nefritis en anorectale malformatie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3661244010 Lowe Kohn Cohen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3661245011 Deafness, nephritis, anorectal malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3661246012 Deafness, nephritis, anorectal malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6612551000146117 syndroom van Lowe-Kohn-Cohen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6612561000146119 Lowe-Kohn-Cohen-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748341000146113 syndroom van doofheid, nefritis en anorectale malformatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748351000146111 syndroom van doofheid, nefritis en anorectale malformatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3661247015 An extremely rare anorectal malformation syndrome with characteristics of imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lowe Kohn Cohen syndrome Is a Anal atresia true Inferred relationship Some
Lowe Kohn Cohen syndrome Finding site Structure of parenchyma of kidney true Inferred relationship Some 2
Lowe Kohn Cohen syndrome Occurrence Congenital true Inferred relationship Some 2
Lowe Kohn Cohen syndrome Occurrence Congenital true Inferred relationship Some 3
Lowe Kohn Cohen syndrome Occurrence Congenital true Inferred relationship Some 1
Lowe Kohn Cohen syndrome Finding site Anal structure true Inferred relationship Some 1
Lowe Kohn Cohen syndrome Finding site Ear structure true Inferred relationship Some 3
Lowe Kohn Cohen syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Lowe Kohn Cohen syndrome Is a Congenital nephritis true Inferred relationship Some
Lowe Kohn Cohen syndrome Associated morphology ontsteking (afwijkende morfologie) false Inferred relationship Some 2
Lowe Kohn Cohen syndrome Associated morphology atresie (afwijkende morfologie) false Inferred relationship Some 1
Lowe Kohn Cohen syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Lowe Kohn Cohen syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lowe Kohn Cohen syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lowe Kohn Cohen syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lowe Kohn Cohen syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
Lowe Kohn Cohen syndrome Is a Disorder of ear true Inferred relationship Some
Lowe Kohn Cohen syndrome Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 2
Lowe Kohn Cohen syndrome Is a Congenital hearing disorder false Inferred relationship Some
Lowe Kohn Cohen syndrome Interprets Hearing true Inferred relationship Some 4
Lowe Kohn Cohen syndrome Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 1
Lowe Kohn Cohen syndrome Is a Congenital hearing loss (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start