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776204008: Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability 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
3736335017 Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736336016 Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736335017 Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736336016 Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3452151001000115 Kolobomatöse Mikrophtalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881911000172119 syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
881911000172119 syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452151001000115 Kolobomatöse Mikrophtalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-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
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site œil entier false Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Central obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Congenital anomaly of endocrine gonad (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site Entire eye proper true Inferred relationship Existential restriction modifier (core metadata concept) 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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