1220589007: Keppen Lubinsky syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \constatation générale à propos des tissus mous\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Keppen Lubinsky syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky 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)\Keppen Lubinsky syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Keppen Lubinsky syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Keppen Lubinsky 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)\Keppen Lubinsky syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Keppen Lubinsky syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Keppen Lubinsky syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Keppen Lubinsky syndrome (disorder)
• \Disease\affection dégénérative\lipodystrophie\Genetic lipodystrophy (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Keppen Lubinsky 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)\Keppen Lubinsky syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Keppen Lubinsky syndrome (disorder)
• \Disease\affection du tissu conjonctif\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\déficience intellectuelle grave (trouble)\Keppen Lubinsky syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Keppen Lubinsky 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)\Keppen Lubinsky syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Premature aging syndrome (disorder)\Keppen Lubinsky syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\déficience intellectuelle grave (trouble)\Keppen Lubinsky syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Keppen Lubinsky syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Keppen Lubinsky syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045301015	Keppen Lubinsky syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5045302010	Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5045303017	Keppen Lubinsky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	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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