77817004: Neu-Laxova syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Neu-Laxova syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Neu-Laxova syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome

\Functional finding\Abnormal keratinisation\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Neu-Laxova syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Neu-Laxova syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disease\Metabolic disease\Organic acid metabolism disorder\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Neu-Laxova syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Neu-Laxova syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Neu-Laxova syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Neu-Laxova syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1234170016 NLS - Neu-Laxova syndrome en Synonym Active Case sensitive SNOMED CT core

129141014 Neu-Laxova syndrome en Synonym Active Case sensitive SNOMED CT core

3788772015 3-phosphoglycerate dehydrogenase deficiency neonatal form en Synonym Active Case insensitive SNOMED CT core

818689017 Neu-Laxova syndrome (disorder) en Fully specified name Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neu-Laxova syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Neu-Laxova syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Neu-Laxova syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Neu-Laxova syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	4
Neu-Laxova syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Neu-Laxova syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Neu-Laxova syndrome	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Some
Neu-Laxova syndrome	Is a	3-Phosphoglycerate dehydrogenase deficiency	true	Inferred relationship	Some
Neu-Laxova syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Neu-Laxova syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Neu-Laxova syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Neu-Laxova syndrome	Interprets	Keratinisation	true	Inferred relationship	Some	4
Neu-Laxova syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Neu-Laxova syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Neu-Laxova syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
Neu-Laxova syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Neu-Laxova syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Neu-Laxova syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neu-Laxova syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Neu-Laxova syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Neu-Laxova syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Neu-Laxova syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Neu-Laxova syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Neu-Laxova syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Neu-Laxova syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Neu-Laxova syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Neu-Laxova syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Neu-Laxova syndrome	Finding site	Entire brain	false	Inferred relationship	Some	1
Neu-Laxova syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neu-Laxova syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Neu-Laxova syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Neu-Laxova syndrome	Finding site	Brain structure	false	Inferred relationship	Some	3
Neu-Laxova syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some
Neu-Laxova syndrome	Finding site	Brain structure	false	Inferred relationship	Some
Neu-Laxova syndrome	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1234170016	NLS - Neu-Laxova syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
129141014	Neu-Laxova syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3788772015	3-phosphoglycerate dehydrogenase deficiency neonatal form	en	Synonym	Active	Case insensitive	SNOMED CT core
818689017	Neu-Laxova syndrome (disorder)	en	Fully specified name	Active	Case sensitive	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	Case sensitive	SNOMED CT core