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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
881911000172119 syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1005611000172112 colobomateuze microftalmie, obesitas, hypogenitalisme, intellectuele achterstand-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Congenital smallness true Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site Entire eye true Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Microphthalmos co-occurrent with congenital ocular coloboma (disorder) true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Interprets Body weight measure true Inferred relationship Some 4
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Central obesity true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Congenital anomaly of endocrine gonad (disorder) true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Occurrence Congenital true Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site Gonadal endocrine structure true Inferred relationship Some 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Finding site Eye structure true Inferred relationship Some 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation Above reference range true Inferred relationship Some 4
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 5
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 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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