400128006: Lethal tight skin contracture syndrome (disorder)

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

\Deformity (finding)\Deformity of tissue\Congenital deformity of soft tissue (disorder)\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Deformity (finding)\Congenital deformity (disorder)\Congenital deformity of soft tissue (disorder)\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue (disorder)\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\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)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of soft tissue (disorder)\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue (disorder)\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Laminopathy with premature aging (disorder)\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lethal tight skin contracture syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Congenital deformity of soft tissue (disorder)\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal tight skin contracture syndrome (disorder)	Is a	Fibrotic disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Associated morphology	Fibrosis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal tight skin contracture syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal tight skin contracture syndrome (disorder)	Is a	Genodermatosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal tight skin contracture syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal tight skin contracture syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal tight skin contracture syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal tight skin contracture syndrome (disorder)	Is a	Congenital skin contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal tight skin contracture syndrome (disorder)	Is a	Laminopathy with premature aging (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal tight skin contracture syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1768048012	Lethal tight skin contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1779386015	Lethal tight skin contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787108013	Infantile restrictive dermopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1768048012	Lethal tight skin contracture syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1768048012	Lethal tight skin contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1779386015	Lethal tight skin contracture syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1779386015	Lethal tight skin contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787108013	Infantile restrictive dermopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1787108013	Infantile restrictive dermopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3046359017	Congenital skin contracture	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3046359017	Congenital skin contracture	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3414031001000111	Restriktive Dermopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6375211000241112	dermopathie restrictive létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6375211000241112	dermopathie restrictive létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414031001000111	Restriktive Dermopathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module