FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

254148004: Hereditary acroosteolysis (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3776724019 Hereditary acroosteolysis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3776725018 Hereditary acroosteolysis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5082241000241110 acrostéolyse héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary acroosteolysis (disorder) Is a Idiopathic osteolyses false Inferred relationship Some
Hereditary acroosteolysis (disorder) Associated morphology Dysplasia false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Finding site Skeletal system structure false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Finding site Bone structure true Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Occurrence Congenital false Inferred relationship Some
Hereditary acroosteolysis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Finding site Bone structure false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Occurrence Congenital false Inferred relationship Some 2
Hereditary acroosteolysis (disorder) Finding site Bone structure false Inferred relationship Some 2
Hereditary acroosteolysis (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Hereditary acroosteolysis (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Occurrence Congenital false Inferred relationship Some 1
Hereditary acroosteolysis (disorder) Is a Acroosteolysis true Inferred relationship Some
Hereditary acroosteolysis (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. Is a True Hereditary acroosteolysis (disorder) Inferred relationship Some
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. Is a True Hereditary acroosteolysis (disorder) Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a True Hereditary acroosteolysis (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start