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363070008: Developmental hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2141 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Andermann syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Phosphoribosylaminoimidazole carboxylase deficiency disorder (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Solute carrier family 12 member 2-related developmental delay, intellectual disability, sensorineural deafness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
3q26q28 deletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Behr syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cherubism with gingival fibromatosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dibasic amino aciduria type 1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Mandibuloacral dysplasia associated to MTX2 Is a True Developmental hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 8 Is a True Developmental hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 5 Is a True Developmental hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 6 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 10 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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