FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

201141000146101: syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme bij vrouw (aandoening)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module
13509861000146113 Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13509871000146119 Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13509881000146117 syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme bij vrouw nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13509891000146115 congenitale spierdystrofie met infantiel cataract en hypogonadisme bij vrouw nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13509901000146119 syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme bij vrouw (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Disorder of endocrine ovary false Inferred relationship Some
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) true Inferred relationship Some
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Congenital true Inferred relationship Some 1
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Skeletal muscle structure true Inferred relationship Some 1
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Dystrophy true Inferred relationship Some 1
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Congenital true Inferred relationship Some 2
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Ovarian endocrine structure true Inferred relationship Some 2
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence Infancy true Inferred relationship Some 4
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Finding site Lens clear true Inferred relationship Some 4
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Associated morphology Opacity true Inferred relationship Some 4
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a Female hypogonadism syndrome true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start