722056009: Oculocerebrofacial syndrome Kaufman type (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\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\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type

\Disorder of head\Disorder of eye region\Disorder of eye\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\Anomaly of eye\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\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\Intellectual ability - finding\Intellectual disability\Oculocerebrofacial syndrome Kaufman type
\Functional finding\Intelligence finding\Intellectual ability - finding\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\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\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Oculocerebrofacial syndrome Kaufman type
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of head\Congenital anomaly of eye\Oculocerebrofacial syndrome Kaufman type

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3330410012 Oculocerebrofacial syndrome Kaufman type en Synonym Active Initial character case insensitive SNOMED CT core

3330411011 Kaufman oculocerebrofacial syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type	Finding site	Eye structure	true	Inferred relationship	Some	2
Oculocerebrofacial syndrome Kaufman type	Finding site	Face structure	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Oculocerebrofacial syndrome Kaufman type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Finding site	Structure of head	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type	Is a	Congenital microcephaly	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type	Has interpretation	Impaired	true	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Oculocerebrofacial syndrome Kaufman type	Has interpretation	Impaired	true	Inferred relationship	Some	6
Oculocerebrofacial syndrome Kaufman type	Is a	Microcephalus	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Intellectual disability	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	true	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type	Finding site	Brain structure	false	Inferred relationship	Some	3
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	false	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type	Occurrence	Congenital	false	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type	Finding site	Eye structure	false	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type	Finding site	Face structure	false	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type	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
3330409019	Oculocerebrofacial syndrome Kaufman type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3330410012	Oculocerebrofacial syndrome Kaufman type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3330411011	Kaufman oculocerebrofacial syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core