722056009: Oculocerebrofacial syndrome Kaufman type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman type (disorder)

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

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Oculocerebrofacial syndrome Kaufman type (disorder)

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

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

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Oculocerebrofacial syndrome Kaufman type (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Oculocerebrofacial syndrome Kaufman type (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Oculocerebrofacial syndrome Kaufman type (disorder)

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

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

3330410012 Oculocerebrofacial syndrome Kaufman type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3330411011 Kaufman oculocerebrofacial syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330412016 Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3912441000052114 okulocerebrofacialt syndrom, Kaufmans typ sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	mikrocefali	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	Eye structure	false	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	Face structure	false	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Finding site	Head structure	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Oculocerebrofacial syndrome Kaufman type (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	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 (core metadata concept)	SNOMED CT core
3330410012	Oculocerebrofacial syndrome Kaufman type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330411011	Kaufman oculocerebrofacial syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330412016	Syndrome with characteristics of psychomotor retardation, microcephaly, up-slanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. Other anomalies can be present and include long thin hands and feet, ambiguous genitalia, hypertelorism. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the UBE3B gene (608047) on chromosome 12q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3912441000052114	okulocerebrofacialt syndrom, Kaufmans typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)