717887003: Biemond syndrome type 2 (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior 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 proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Disorder of eye region\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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 proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Finding of head region\Globe finding\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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 proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disorder of head\Disorder of eye region\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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\Congenital ocular coloboma\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 proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Globe finding\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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 proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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\Congenital ocular coloboma\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\Finding of intellectual ability\Intellectual disability\Biemond syndrome type 2
\Functional finding\Intelligence finding\Finding of intellectual ability\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 proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\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 proper\Anomaly of eye\Lesion of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\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 proper\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 proper\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 proper\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 proper\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\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Biemond syndrome type 2
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma\Congenital coloboma of iris\Biemond syndrome type 2
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Biemond syndrome type 2

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

Descriptions:

Id Description Lang Type Status Case? Module

3324371017 Biemond syndrome type 2 (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3324372012 Biemond syndrome type 2 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets