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

\Disorder of eye region\MOMO syndrome

\Hereditary disorder of the visual system\MOMO syndrome

\Congenital anomaly of visual system\MOMO syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\MOMO syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\MOMO syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\MOMO syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\MOMO syndrome

\Weight finding\High body weight\Obese\Obesity\MOMO syndrome

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

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3430960014 Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3430961013 MOMO syndrome en Synonym Active Case sensitive SNOMED CT core

3430962018 Macrocephaly, obesity, mental disability, ocular abnormality syndrome en Synonym Active Case insensitive SNOMED CT core

3430963011 MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome en Synonym Active Case sensitive SNOMED CT core

3430964017 A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3430960014	Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3430961013	MOMO syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3430962018	Macrocephaly, obesity, mental disability, ocular abnormality syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3430963011	MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3430964017	A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	en	Definition	Active	Case sensitive	SNOMED CT core