722037004: syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas (aandoening)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\MEHMO syndrome

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\MEHMO syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\MEHMO syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\MEHMO syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\MEHMO syndrome

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\MEHMO syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\MEHMO syndrome
\Disease\Obesity (disorder)\MEHMO syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\MEHMO syndrome
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\MEHMO syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\MEHMO syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\MEHMO syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\MEHMO syndrome

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

3330287017 Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330288010 MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330289019 MEHMO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643127019 Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643128012 Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643161017 X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6834931000146111 syndroom van mentale retardatie, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6942261000146110 MEHMO-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7495891000146115 syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7718961000146115 syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7860491000146117 syndroom van verstandelijke handicap, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3330290011 MEHMO syndrome has characteristics of severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of who died within the first two years of life. The causative gene has been located to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MEHMO syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
MEHMO syndrome	Is a	mentale retardatie	false	Inferred relationship	Some
MEHMO syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
MEHMO syndrome	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
MEHMO syndrome	Is a	Obesity (disorder)	true	Inferred relationship	Some
MEHMO syndrome	Has definitional manifestation	Obese (finding)	false	Inferred relationship	Some
MEHMO syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
MEHMO syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
MEHMO syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
MEHMO syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	2
MEHMO syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
MEHMO syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
MEHMO syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
MEHMO syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
MEHMO syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
MEHMO syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
MEHMO syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
MEHMO syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
MEHMO syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
MEHMO syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
MEHMO syndrome	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

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
3330287017	Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330288010	MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330289019	MEHMO syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643127019	Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643128012	Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643161017	X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6834931000146111	syndroom van mentale retardatie, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6942261000146110	MEHMO-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495891000146115	syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718961000146115	syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7860491000146117	syndroom van verstandelijke handicap, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3330290011	MEHMO syndrome has characteristics of severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of who died within the first two years of life. The causative gene has been located to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core