77817004: Neu-Laxova syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \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)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \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)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Neu-Laxova syndrome
• \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\Neu-Laxova syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Neu-Laxova syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Neu-Laxova syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of serine metabolism\3-Phosphoglycerate dehydrogenase deficiency\Neu-Laxova syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Neu-Laxova syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Neu-Laxova syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal recessive ichthyosis (disorder)\Neu-Laxova syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1012571000172111	déficit en 3-phosphoglycerate déshydrogénase, forme néonatale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1234170016	NLS - Neu-Laxova syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
129141014	Neu-Laxova syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
370721000077119	syndrome de Neu-Laxova	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3788772015	3-phosphoglycerate dehydrogenase deficiency neonatal form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
657941000077119	syndrome de Neu-Laxova (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
818689017	Neu-Laxova syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3788773013	A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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