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773406003: Mandibular hypoplasia, deafness, progeroid 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
3723420015 MDP (mandibular hypoplasia, deafness, progeroid) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723421016 Mandibular hypoplasia, hearing loss, progeroid syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723422011 Mandibular hypoplasia, deafness, progeroid syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723423018 Mandibular hypoplasia, deafness, progeroid syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723424012 A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723425013 A rare genetic premature ageing disease characterised by sensorineural deafness, generalised lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridaemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Congenital micrognathism true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) maladie métabolique de l'os true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Premature aging syndrome (disorder) true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 3
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 4
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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