1216939003: Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Progeroid features, hepatocellular carcinoma predisposition syndrome

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5033739014	Progeroid features, hepatocellular carcinoma predisposition syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5033740011	Ruijs Aalfs syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5033741010	Progeroid features, hepatocellular carcinoma predisposition syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5033742015	A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
5033743013	A rare inherited cancer-predisposing syndrome with characteristics of early-onset hepatocellular carcinoma, genomic instability and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts and premature hair greying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly and pes planus have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start