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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
4203911000052114 syndrom av progeroid typ med hypoplasi i underkäken och dövhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a 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) Is a Congenital micrognathism true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a Metabolic bone disease true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a Premature aging syndrome (disorder) true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Interprets Hearing true Inferred relationship Some 4
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Finding site Face structure false Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Occurrence Congenital false Inferred relationship Some 5
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a 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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