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

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\...

\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\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Degenerative disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Congenital total lipodystrophy (disorder)\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue\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

3893661000052110 syndrom med lipodystrofi, intellektuell funktionsnedsättning och dövhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Disorder with defective osteoid mineralization	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Congenital total lipodystrophy (disorder)	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Osteoid tissue	true	Inferred relationship	Some	4
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	3
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Genetic lipodystrophy (disorder)	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Congenital anomaly of subcutaneous tissue	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
3893661000052110	syndrom med lipodystrofi, intellektuell funktionsnedsättning och dövhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)