717887003: Biemond syndrome type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Biemond syndrome type 2

\Finding of general physiological development\Disorder of stature\Short stature disorder\Biemond syndrome type 2

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2

\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Anterior segment finding\Iris finding\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Biemond syndrome type 2
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Biemond syndrome type 2
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Biemond syndrome type 2

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Biemond syndrome type 2

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Lesion of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of anterior uveal tract\Disorder of iris\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Biemond syndrome type 2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of iris\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Biemond syndrome type 2

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3324372012 Biemond syndrome type 2 en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Biemond syndrome type 2	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Biemond syndrome type 2	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
Biemond syndrome type 2	Interprets	Height / growth measure	true	Inferred relationship	Some	2
Biemond syndrome type 2	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Biemond syndrome type 2	Has interpretation	Impaired	true	Inferred relationship	Some	3
Biemond syndrome type 2	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Biemond syndrome type 2	Has interpretation	Impaired	true	Inferred relationship	Some	4
Biemond syndrome type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Biemond syndrome type 2	Is a	Coloboma of iris	false	Inferred relationship	Some
Biemond syndrome type 2	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Biemond syndrome type 2	Is a	Intellectual disability	false	Inferred relationship	Some
Biemond syndrome type 2	Is a	Short stature disorder	true	Inferred relationship	Some
Biemond syndrome type 2	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	1
Biemond syndrome type 2	Finding site	Iris structure	true	Inferred relationship	Some	1
Biemond syndrome type 2	Is a	Congenital coloboma of iris	true	Inferred relationship	Some
Biemond syndrome type 2	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	2
Biemond syndrome type 2	Occurrence	Congenital	false	Inferred relationship	Some	2
Biemond syndrome type 2	Finding site	Iris structure	false	Inferred relationship	Some	2
Biemond syndrome type 2	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3324371017	Biemond syndrome type 2 (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3324372012	Biemond syndrome type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core