773406003: Mandibular hypoplasia, deafness, progeroid syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of jaw\Anomaly of jaw size\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Mandibular jaw size anomaly\Hypoplasia of mandibular bone\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of mandible\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Metabolic disease\Metabolic bone disease\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Craniofacial microsomia\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Congenital anomaly of mandible\Congenital micrognathism\Mandibular hypoplasia, deafness, progeroid syndrome

Status: current, Primitive. 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 Active Case sensitive SNOMED CT core

3723421016 Mandibular hypoplasia, hearing loss, progeroid syndrome en Synonym Active Case insensitive SNOMED CT core

3723422011 Mandibular hypoplasia, deafness, progeroid syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3723423018 Mandibular hypoplasia, deafness, progeroid syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Congenital micrognathism	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Metabolic bone disease	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Mandibular hypoplasia, deafness, progeroid syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Mandibular hypoplasia, deafness, progeroid syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Premature ageing syndrome	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Mandibular hypoplasia, deafness, progeroid syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Mandibular hypoplasia, deafness, progeroid syndrome	Finding site	Bone structure of mandible	true	Inferred relationship	Some	1
Mandibular hypoplasia, deafness, progeroid syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Mandibular hypoplasia, deafness, progeroid syndrome	Finding site	Face structure	false	Inferred relationship	Some	5
Mandibular hypoplasia, deafness, progeroid syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	5
Mandibular hypoplasia, deafness, progeroid syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	5
Mandibular hypoplasia, deafness, progeroid syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Mandibular hypoplasia, deafness, progeroid syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723420015	MDP (mandibular hypoplasia, deafness, progeroid) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3723421016	Mandibular hypoplasia, hearing loss, progeroid syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3723422011	Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723423018	Mandibular hypoplasia, deafness, progeroid syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core