774102003: Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

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

\Finding of head region\Disorder of eye region (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (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\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

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

\Disorder of eye region (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Hereditary disorder of the visual system (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Congenital anomaly of visual system\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Obesity (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (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\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3728131018 Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728132013 Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3728133015 MOMES syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3727986015 A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4215211000052116 syndrom med intellektuell funktionsnedsättning, fetma, prognati och ögon- och hudanomalier sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

5679821000052111 syndrom med intellektuell funktionsnedsättning, obesitas, prognati och ögon- och hudanomalier sv Synonym (core metadata concept) Active Entire term 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
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Interprets	Body weight measure	true	Inferred relationship	Some	4
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Finding site	Eye region structure (body structure)	true	Inferred relationship	Some	2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Obesity (disorder)	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Disorder of eye region (disorder)	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (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

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Id	Description	Lang	Type	Status	Case?	Module
3728131018	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728132013	Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3728133015	MOMES syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727986015	A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4215211000052116	syndrom med intellektuell funktionsnedsättning, fetma, prognati och ögon- och hudanomalier	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
5679821000052111	syndrom med intellektuell funktionsnedsättning, obesitas, prognati och ögon- och hudanomalier	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)