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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3430961013 MOMO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430962018 Macrocephaly, obesity, mental disability, ocular abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430963011 MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403236016 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403237013 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3430960014 Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430961013 MOMO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430962018 Macrocephaly, obesity, mental disability, ocular abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3430963011 MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403236016 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403237013 MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterised by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
567851000274112 Makrosomie-Adipositas-Intelligenzminderung-Augenanomalie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451341001000110 MOMO-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6396691000241115 syndrome de macrocéphalie, obésité, déficience intellectuelle et anomalies oculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6396701000241115 syndrome MOMO (macrocephaly, obesity, mental disability, ocular abnormality) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6396691000241115 syndrome de macrocéphalie, obésité, déficience intellectuelle et anomalies oculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6396701000241115 syndrome MOMO (macrocephaly, obesity, mental disability, ocular abnormality) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
567851000274112 Makrosomie-Adipositas-Intelligenzminderung-Augenanomalie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451341001000110 MOMO-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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