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1208614008: Autosomal dominant deafness with onychodystrophy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4965380013 Autosomal dominant deafness with onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4965381012 Autosomal dominant deafness with onychodystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4965384016 Autosomal dominant hearing loss, onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4965385015 DDOD (dominant deafness onychodystrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399848016 A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399849012 A rare multiple congenital anomalies syndrome characterised by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4965380013 Autosomal dominant deafness with onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4965381012 Autosomal dominant deafness with onychodystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4965384016 Autosomal dominant hearing loss, onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4965385015 DDOD (dominant deafness onychodystrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4965391018 A rare multiple congenital anomalies syndrome with characteristics of congenital hearing impairment, small or absent nails on the hands and feet and small or absent terminal phalanges. Caused, in some cases by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. Inheritance is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399848016 A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399849012 A rare multiple congenital anomalies syndrome characterised by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424101001000113 Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424101001000113 Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes 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
Autosomal dominant deafness with onychodystrophy syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant deafness with onychodystrophy syndrome Is a Deafness with onychodystrophy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant deafness with onychodystrophy syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant deafness with onychodystrophy syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant deafness with onychodystrophy syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant deafness with onychodystrophy syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant deafness with onychodystrophy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant deafness with onychodystrophy syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant deafness with onychodystrophy syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant deafness with onychodystrophy syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant deafness with onychodystrophy syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant deafness with onychodystrophy syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant deafness with onychodystrophy syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal dominant deafness with onychodystrophy syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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