238874008: Neonatal pseudo-hydrocephalic progeroid syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding by site\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Finding of body region\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Finding of body region\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Finding by site\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder of fetus or newborn (disorder)\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder of fetus or newborn (disorder)\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid syndrome
\Disease\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Neonatal pseudo-hydrocephalic progeroid 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	Reference Sets
358004015	Neonatal pseudo-hydrocephalic progeroid syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
358005019	Wiedemann-Rautenstrauch syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
627813012	Neonatal pseudo-hydrocephalic progeroid syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Progeria	false	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Premature aging syndrome (disorder)	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Neonatal disorder	false	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Neonatal metabolic disorder (disorder)	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some
Neonatal pseudo-hydrocephalic progeroid syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neonatal pseudo-hydrocephalic progeroid syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Neonatal pseudo-hydrocephalic progeroid syndrome	Occurrence	Neonatal	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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