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717887003: Biemond-syndroom type 2 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324371017 Biemond syndrome type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324372012 Biemond syndrome type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6589811000146115 BS2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6589821000146113 syndroom van Biemond type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6589831000146110 Biemond-syndroom type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6746291000146112 syndroom van coloboma iridis, kleine lengte, obesitas, hypogenitalisme, postaxiale polydactylie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7176971000146112 syndroom van iriscoloboom, kleine gestalte, obesitas, hypogonadisme, postaxiale polydactylie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12577171000146118 Biemond-syndroom type 2 (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3324374013 An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997. 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
Biemond syndrome type 2 (disorder) Occurrence Congenital true Inferred relationship Some 1
Biemond syndrome type 2 (disorder) Is a coloboom van iris false Inferred relationship Some
Biemond syndrome type 2 (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Biemond syndrome type 2 (disorder) Is a mentale retardatie false Inferred relationship Some
Biemond syndrome type 2 (disorder) Is a Short stature disorder true Inferred relationship Some
Biemond syndrome type 2 (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 1
Biemond syndrome type 2 (disorder) Finding site Iris structure true Inferred relationship Some 1
Biemond syndrome type 2 (disorder) Is a Congenital coloboma of iris true Inferred relationship Some
Biemond syndrome type 2 (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 2
Biemond syndrome type 2 (disorder) Occurrence Congenital false Inferred relationship Some 2
Biemond syndrome type 2 (disorder) Finding site Iris structure false Inferred relationship Some 2
Biemond syndrome type 2 (disorder) Is a Intellectual disability true Inferred relationship Some
Biemond syndrome type 2 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Biemond syndrome type 2 (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Biemond syndrome type 2 (disorder) Interprets Height / growth measure true Inferred relationship Some 2
Biemond syndrome type 2 (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Biemond syndrome type 2 (disorder) Has interpretation Impaired true Inferred relationship Some 3
Biemond syndrome type 2 (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Biemond syndrome type 2 (disorder) Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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