1220589007: Keppen Lubinsky syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Keppen Lubinsky syndrome

\General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Keppen Lubinsky syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky 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\Keppen Lubinsky syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Keppen Lubinsky syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Keppen Lubinsky syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Keppen Lubinsky syndrome

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Keppen Lubinsky syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Keppen Lubinsky syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Keppen Lubinsky syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky syndrome

\Disease\Genetic disease\Genetic lipodystrophy\Keppen Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Keppen Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Keppen Lubinsky syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Keppen Lubinsky syndrome
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy\Keppen Lubinsky syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Keppen Lubinsky 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\Keppen Lubinsky syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Keppen Lubinsky syndrome
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Keppen Lubinsky syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome
\Disease\Congenital disease\Inborn error of metabolism\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Keppen Lubinsky syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Keppen Lubinsky syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Keppen Lubinsky syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Keppen Lubinsky syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5045300019 Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

5045301015 Keppen Lubinsky syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5045302010 Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

5045303017 Keppen Lubinsky syndrome en Synonym Active Case sensitive SNOMED CT core

5045304011 A rare genetic primary lipodystrophy syndrome with characteristics of severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy and distinct facial dysmorphism, which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal. en Definition Active Case sensitive SNOMED CT core

5045305012 A rare genetic primary lipodystrophy syndrome with characteristics of severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalised lipodystrophy and distinct facial dysmorphism, which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keppen Lubinsky syndrome	Is a	Severe intellectual disability	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Is a	Genetic lipodystrophy	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Keppen Lubinsky syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Keppen Lubinsky syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Keppen Lubinsky syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Keppen Lubinsky syndrome	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Some	1
Keppen Lubinsky syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Keppen Lubinsky syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Is a	Premature ageing syndrome	true	Inferred relationship	Some
Keppen Lubinsky syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Keppen Lubinsky syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Keppen Lubinsky syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Keppen Lubinsky syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Keppen Lubinsky syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5045300019	Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5045301015	Keppen Lubinsky syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5045302010	Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5045303017	Keppen Lubinsky syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5045304011	A rare genetic primary lipodystrophy syndrome with characteristics of severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy and distinct facial dysmorphism, which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal.	en	Definition	Active	Case sensitive	SNOMED CT core
5045305012	A rare genetic primary lipodystrophy syndrome with characteristics of severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalised lipodystrophy and distinct facial dysmorphism, which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth and high-arched palate. Laboratory analysis of serum and urine are normal.	en	Definition	Active	Case sensitive	SNOMED CT core