722056009: Oculocerebrofacial syndrome Kaufman type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Oculocerebrofacial syndrome Kaufman type

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Oculocerebrofacial syndrome Kaufman type
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Oculocerebrofacial syndrome Kaufman type
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Oculocerebrofacial syndrome Kaufman type

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculocerebrofacial syndrome Kaufman type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Developmental hereditary disorder\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type

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

3330409019 Oculocerebrofacial syndrome Kaufman type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3330410012 Oculocerebrofacial syndrome Kaufman type en Synonym Active Only initial character case insensitive SNOMED CT core module

3330411011 Kaufman oculocerebrofacial syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocerebrofacial syndrome Kaufman type	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	3
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Oculocerebrofacial syndrome Kaufman type	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Oculocerebrofacial syndrome Kaufman type	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	4
Oculocerebrofacial syndrome Kaufman type	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Oculocerebrofacial syndrome Kaufman type	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Oculocerebrofacial syndrome Kaufman type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Oculocerebrofacial syndrome Kaufman type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Oculocerebrofacial syndrome Kaufman type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Oculocerebrofacial syndrome Kaufman type	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	2
Oculocerebrofacial syndrome Kaufman type	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Oculocerebrofacial syndrome Kaufman type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
Oculocerebrofacial syndrome Kaufman type	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Oculocerebrofacial syndrome Kaufman type	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
Oculocerebrofacial syndrome Kaufman type	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Oculocerebrofacial syndrome Kaufman type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Oculocerebrofacial syndrome Kaufman type	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Oculocerebrofacial syndrome Kaufman type	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330409019	Oculocerebrofacial syndrome Kaufman type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3330410012	Oculocerebrofacial syndrome Kaufman type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3330411011	Kaufman oculocerebrofacial syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module