721973006: Lipodystrophy, intellectual disability, deafness syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation générale à propos des tissus mous\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation générale à propos des tissus mous\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\...
• \Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection dégénérative\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection dégénérative\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal and connective tissue disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection du tissu conjonctif\affection congénitale du tissu conjonctif\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection du tissu conjonctif\Musculoskeletal and connective tissue disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection du tissu conjonctif\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\affection du tissu conjonctif\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble métabolique\maladie métabolique de l'os\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Congenital disease\affection congénitale du tissu conjonctif\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Congenital generalised lipodystrophy\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3327890014	Lipodystrophy, intellectual disability, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3327891013	Lipodystrophy, intellectual disability, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3327892018	Rajab Spranger syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3327893011	An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3327894017	An extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterised by generalised congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralised tubular bones and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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