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776417008: Acroosteolysis, keloid-like lesions, premature aging 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
3736343010 Acroosteolysis, keloid-like lesions, premature ageing syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736344016 Acroosteolysis, keloid-like lesions, premature aging syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736345015 Premature aging syndrome, Penttinen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736346019 Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736347011 Premature ageing syndrome Penttinen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3732001012 A rare genetic progeroid syndrome disorder with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736343010 Acroosteolysis, keloid-like lesions, premature ageing syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736344016 Acroosteolysis, keloid-like lesions, premature aging syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736345015 Premature aging syndrome, Penttinen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3736346019 Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736347011 Premature ageing syndrome Penttinen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3732001012 A rare genetic progeroid syndrome disorder with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3388351001000119 Akro-osteolyse-keloid-ähnliche Läasionen-vorzeitige Alterung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5542981000241116 syndrome de vieillissement prématuré, acro-ostéolyse et lésions de type chéloïde fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5542981000241116 syndrome de vieillissement prématuré, acro-ostéolyse et lésions de type chéloïde fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388351001000119 Akro-osteolyse-keloid-ähnliche Läasionen-vorzeitige Alterung-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
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Premature aging syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Acroosteolysis false Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acroosteolysis, keloid-like lesions, premature ageing syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Metabolic bone disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acroosteolysis, keloid-like lesions, premature ageing syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Hereditary acroosteolysis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a Disorder involving the integument of fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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