254223007: Cutis laxa, recessive, type II (disorder)

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

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

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\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\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\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\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\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\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\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\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive (disorder)\Cutis laxa, recessive, type II

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

378449013 Cutis laxa, recessive, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

645084015 Cutis laxa, recessive, type II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1496391000005114 Cutis laxa, recessiv, type II da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis laxa, recessive, type II	Is a	Cutis laxa, autosomal recessive (disorder)	true	Inferred relationship	Some
Cutis laxa, recessive, type II	Finding site	Connective tissue structure	false	Inferred relationship	Some
Cutis laxa, recessive, type II	Occurrence	Congenital	false	Inferred relationship	Some
Cutis laxa, recessive, type II	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Cutis laxa, recessive, type II	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Cutis laxa, recessive, type II	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Finding site	Skin structure	false	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Occurrence	Congenital	false	Inferred relationship	Some	2
Cutis laxa, recessive, type II	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Cutis laxa, recessive, type II	Finding site	Skin structure	true	Inferred relationship	Some	2
Cutis laxa, recessive, type II	Occurrence	Congenital	true	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Finding site	Connective tissue structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	Is a	True	Cutis laxa, recessive, type II	Inferred relationship	Some
A rare genetic dermis elastic tissue disease with characteristics of redundant, over folded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.	Is a	True	Cutis laxa, recessive, type II	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378449013	Cutis laxa, recessive, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
645084015	Cutis laxa, recessive, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1496391000005114	Cutis laxa, recessiv, type II	da	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Danish module (core metadata concept)