724137002: Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Finding of head region\Disorder of eye region\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Disorder of head\Disorder of eye region\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Eye / vision finding\Visual system disorder\...

\Disorder of eye region\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Hereditary disorder of the visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Congenital anomaly of visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\General finding of observation of patient\Body measurement finding\...

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Weight finding\High body weight\Obese\Obesity\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Obesity\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Disorder of head\Disorder of eye region\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Macrocephaly, obesity, mental disability, ocular abnormality syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, obesity, mental disability, ocular abnormality syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3430960014 Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3430961013 MOMO syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3430962018 Macrocephaly, obesity, mental disability, ocular abnormality syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3430963011 MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Macrocephaly	false	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Congenital anomaly of visual system	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Disorder of eye region	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Obesity	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Has definitional manifestation	Obese	false	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Finding site	Eye region structure	false	Inferred relationship	Existential restriction modifier	4
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Interprets	Measured body weight	true	Inferred relationship	Existential restriction modifier	3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Finding site	Eye region structure	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Existential restriction modifier	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Finding site	Entire head	false	Inferred relationship	Existential restriction modifier	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Associated morphology	Enlargement	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	4
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	4
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Macrocephaly, obesity, mental disability, ocular abnormality syndrome	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

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Id	Description	Lang	Type	Status	Case?	Module
3430960014	Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3430961013	MOMO syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3430962018	Macrocephaly, obesity, mental disability, ocular abnormality syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3430963011	MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module