254220005: Inherited cutis laxa (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Inherited cutis laxa
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\Inherited cutis laxa
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378446018 Inherited cutis laxa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645081011 Inherited cutis laxa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5082901000241116 cutis laxa héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited cutis laxa	Is a	Cutis laxa	true	Inferred relationship	Some
Inherited cutis laxa	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Inherited cutis laxa	Finding site	Skin structure	false	Inferred relationship	Some	1
Inherited cutis laxa	Finding site	Connective tissue	false	Inferred relationship	Some
Inherited cutis laxa	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Inherited cutis laxa	Occurrence	Congenital	false	Inferred relationship	Some
Inherited cutis laxa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Inherited cutis laxa	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Inherited cutis laxa	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Inherited cutis laxa	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Inherited cutis laxa	Finding site	Skin structure	false	Inferred relationship	Some	1
Inherited cutis laxa	Occurrence	Congenital	false	Inferred relationship	Some	2
Inherited cutis laxa	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Inherited cutis laxa	Finding site	Skin structure	true	Inferred relationship	Some	2
Inherited cutis laxa	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Inherited cutis laxa	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Inherited cutis laxa	Occurrence	Congenital	true	Inferred relationship	Some	1
Inherited cutis laxa	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Some
Inherited cutis laxa	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Inherited cutis laxa	Is a	Developmental disorder	false	Inferred relationship	Some
Inherited cutis laxa	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Inherited cutis laxa	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cutis laxa, autosomal dominant	Is a	True	Inherited cutis laxa	Inferred relationship	Some
Neonatal cutis laxa with marfanoid phenotype	Is a	True	Inherited cutis laxa	Inferred relationship	Some
Cutis laxa, x-linked	Is a	True	Inherited cutis laxa	Inferred relationship	Some
Cutis laxa, autosomal recessive	Is a	True	Inherited cutis laxa	Inferred relationship	Some
Localized congenital cutis laxa (disorder)	Is a	True	Inherited cutis laxa	Inferred relationship	Some
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	Is a	False	Inherited cutis laxa	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.	Is a	True	Inherited cutis laxa	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378446018	Inherited cutis laxa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645081011	Inherited cutis laxa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5082901000241116	cutis laxa héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module