FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1162984000: X-linked dominant hereditary disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4592777013 X-linked dominant hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4592778015 X-linked dominant hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


44 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked dominant hereditary disease (disorder) est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia punctata, X-linked dominant type (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
chondrodysplasie dominante liée à l'X type Chassaing-Lacombe est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 6 (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Microphthalmia with linear skin defect syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Otopalatodigital syndrome spectrum disorder est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 1 est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Aicardi's syndrome est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Alport syndrome X-linked (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
dysplasie cranio-fronto-nasale est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Fragile X syndrome est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
hypoplasie dermique en aires est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Familial infantile gigantism (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
incontinentia pigmenti est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Nance-Horan syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
syndrome oculo-facio-cardio-dentaire est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked congenital generalized hypertrichosis est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
syndrome immuno-neurologique lié à l'X est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
PPM-X syndrome est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
Adrenoleukodystrophy est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some
X-linked dominant erythropoietic protoporphyria est un(e) (attribut) True X-linked dominant hereditary disease (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start