56759000: Congenital anomaly of subcutaneous tissue (disorder)

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

\General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue

\Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Congenital anomaly of subcutaneous tissue
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of subcutaneous tissue

Status: current, 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

94399014 Congenital anomaly of subcutaneous tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

795306013 Congenital anomaly of subcutaneous tissue (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2999161000005112 kongenit anomali i subkutant væv da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of subcutaneous tissue	Is a	Disorder of subcutaneous tissue (disorder)	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Finding site	Subcutaneous tissue structure	true	Inferred relationship	Some	1
Congenital anomaly of subcutaneous tissue	Finding site	Skin structure	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Is a	Disorder of connective tissue (disorder)	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of subcutaneous tissue	Is a	Disorder of subcutaneous tissue (disorder)	true	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Is a	Lesion of soft tissue (disorder)	false	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Is a	Congenital anomaly of integument	true	Inferred relationship	Some
Congenital anomaly of subcutaneous tissue	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of subcutaneous tissue	Finding site	Subcutaneous tissue structure	false	Inferred relationship	Some	1
Congenital anomaly of subcutaneous tissue	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of subcutaneous tissue	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of subcutaneous tissue	Finding site	Subcutaneous tissue structure	false	Inferred relationship	Some	2
Congenital anomaly of subcutaneous tissue	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of subcutaneous tissue	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of subcutaneous tissue	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fordyce's disease	Is a	False	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some
Hereditary edema of legs	Is a	False	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some
Neurofibromatosis type 1	Is a	False	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	Is a	True	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	True	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some
A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21.	Is a	True	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some
Congenital diffuse lipomatosis	Is a	False	Congenital anomaly of subcutaneous tissue	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
94399014	Congenital anomaly of subcutaneous tissue	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795306013	Congenital anomaly of subcutaneous tissue (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2999161000005112	kongenit anomali i subkutant væv	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)