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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome

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

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Lipodystrophy, intellectual disability, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Lipodystrophy, intellectual disability, deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Lipodystrophy, intellectual disability, deafness syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lipodystrophy, intellectual disability, deafness syndrome

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

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Lipodystrophy, intellectual disability, deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Lipodystrophy, intellectual disability, deafness syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3327891013 Lipodystrophy, intellectual disability, deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3327892018 Rajab Spranger syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lipodystrophy, intellectual disability, deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Congenital anomaly of subcutaneous tissue	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Musculoskeletal and connective tissue disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Lipodystrophy, intellectual disability, deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Disorder with defective osteoid mineralisation	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Congenital generalised lipodystrophy	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Osteoid tissue	true	Inferred relationship	Some	4
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Ear structure	false	Inferred relationship	Some	3
Lipodystrophy, intellectual disability, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Bone structure	false	Inferred relationship	Some	5
Lipodystrophy, intellectual disability, deafness syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome	Finding site	Subcutaneous fatty tissue	false	Inferred relationship	Some	6
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Genetic lipodystrophy	true	Inferred relationship	Some
Lipodystrophy, intellectual disability, deafness syndrome	Is a	Intellectual disability	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
3327890014	Lipodystrophy, intellectual disability, deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3327891013	Lipodystrophy, intellectual disability, deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3327892018	Rajab Spranger syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core