400128006: Lethal tight skin contracture syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Congenital deformity of soft tissue\Congenital skin contracture\Lethal tight skin contracture syndrome

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

\General finding of soft tissue\Skin finding\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\Lethal tight skin contracture syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Congenital skin contracture\Lethal tight skin contracture syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\Lethal tight skin contracture 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 skin contracture\Lethal tight skin contracture syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature ageing syndrome\Laminopathy with premature ageing\Lethal tight skin contracture syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\Lethal tight skin contracture syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Premature ageing syndrome\Laminopathy with premature ageing\Lethal tight skin contracture syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital skin contracture\Lethal tight skin contracture syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Congenital skin contracture\Lethal tight skin contracture syndrome

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

Status: current, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1768048012 Lethal tight skin contracture syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1779386015 Lethal tight skin contracture syndrome en Synonym Active Case insensitive SNOMED CT core

1787108013 Infantile restrictive dermopathy en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal tight skin contracture syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Is a	Congenital skin contracture	true	Inferred relationship	Some
Lethal tight skin contracture syndrome	Is a	Laminopathy with premature ageing	true	Inferred relationship	Some
Lethal tight skin contracture syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal tight skin contracture syndrome	Is a	Fibrotic disorder of skin	false	Inferred relationship	Some
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Associated morphology	Fibrosis	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal tight skin contracture syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Lethal tight skin contracture syndrome	Is a	Genodermatosis	false	Inferred relationship	Some
Lethal tight skin contracture syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Lethal tight skin contracture syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Lethal tight skin contracture syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1768048012	Lethal tight skin contracture syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
1779386015	Lethal tight skin contracture syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
1787108013	Infantile restrictive dermopathy	en	Synonym	Active	Case insensitive	SNOMED CT core