FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

2355008: Rud's syndrome (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Rud's syndrome

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Rud's syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Rud's syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Rud's syndrome

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Rud's syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Rud's syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Rud's syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Rud's syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Rud's syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Rud's syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Rud's syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Rud's syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Rud's syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Rud's syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Rud's syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Rud's syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Rud's 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

5041019 Rud's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5042014 Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

753084013 Rud's syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2837786015 Rud syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rud's syndrome	Is a	Non-specific brain syndrome	false	Inferred relationship	Some
Rud's syndrome	Is a	Dwarfism	false	Inferred relationship	Some
Rud's syndrome	Finding site	Brain structure	true	Inferred relationship	Some	2
Rud's syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Rud's syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Rud's syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Rud's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Rud's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Rud's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Rud's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Rud's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Rud's syndrome	Is a	Disorder of soft tissue of body cavity	false	Inferred relationship	Some
Rud's syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Rud's syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Rud's syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Rud's syndrome	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Rud's syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Rud's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Rud's syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Rud's syndrome	Is a	Functional finding	false	Inferred relationship	Some
Rud's syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Rud's syndrome	Interprets	Keratinization	true	Inferred relationship	Some	3
Rud's syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
Rud's syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5041019	Rud's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5042014	Dwarfism-ichthyosiform erythroderma-mental deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753084013	Rud's syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2837786015	Rud syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core