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788417006: Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3780615017 Moynahan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3780616016 Alopecia, epilepsy, intellectual disability syndrome Moynahan type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3780617013 Alopecia, epilepsy, intellectual disability syndrome Moynahan type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3780618015 A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Epilepsy true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Occurrence Congenital true Inferred relationship Some 1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Hereditary disorder of nervous system true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Finding site Cerebrum true Inferred relationship Some 2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Finding site Hair structure (body structure) true Inferred relationship Some 1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Hereditary disorder of the integument true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Congenital alopecia true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Intellectual disability true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a Developmental hereditary disorder true Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Interprets Intellectual ability (observable entity) true Inferred relationship Some 3
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Has interpretation Impaired true Inferred relationship Some 3
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Interprets Adaptation behavior (observable entity) true Inferred relationship Some 4
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Has interpretation Impaired true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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