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778025006: Atypical hypotonia cystinuria 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
3737288015 Atypical hypotonia cystinuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737289011 Atypical hypotonia cystinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737293017 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777443013 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3737288015 Atypical hypotonia cystinuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737289011 Atypical hypotonia cystinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737293017 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777443013 A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432061001000116 Atypische Hypotonie-Cystinurie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5544661000241111 syndrome atypique d'hypotonie et cystinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5544661000241111 syndrome atypique d'hypotonie et cystinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432061001000116 Atypische Hypotonie-Cystinurie-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
Atypical hypotonia cystinuria syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical hypotonia cystinuria syndrome (disorder) Interprets Muscle tone true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atypical hypotonia cystinuria syndrome (disorder) Is a Cystinuria, type 1 true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical hypotonia cystinuria syndrome (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atypical hypotonia cystinuria syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical hypotonia cystinuria syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Atypical hypotonia cystinuria syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atypical hypotonia cystinuria syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Atypical hypotonia cystinuria syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Atypical hypotonia cystinuria syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 6
Atypical hypotonia cystinuria 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

This concept is not in any reference sets

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