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717887003: Biemond syndrome type 2 (disorder)


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
5401626012 Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further 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 Coloboma of 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 Mental retardation 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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