784381008: Autosomal recessive cutis laxa type 2A (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 (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\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 (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\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 (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\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 (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Disorder of connective tissue (disorder)\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\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 (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa (disorder)\Cutis laxa, autosomal recessive\Cutis laxa, recessive, type II\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Autosomal recessive cutis laxa type 2A (disorder)

Status: current, Not 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

3763865018 ARCL2A - autosomal recessive cutis laxa type 2A en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3763866017 Autosomal recessive cutis laxa type 2A (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3763867014 Autosomal recessive cutis laxa type 2A en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3763868016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5524121000172119 cutis laxa autosomique récessive de type 2A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5524131000172116 dermatolysie autosomique récessive de type 2A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5524141000172111 ARCL2A - autosomal recessive cutis laxa type 2A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5524111000172112 autosomaal recessieve cutis laxa type 2A nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive cutis laxa type 2A (disorder)	Is a	Metabolic bone disease	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2A (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2A (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A (disorder)	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A (disorder)	Is a	Musculoskeletal and connective tissue disorder (disorder)	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A (disorder)	Is a	Cutis laxa, recessive, type II	true	Inferred relationship	Some
Autosomal recessive cutis laxa type 2A (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Autosomal recessive cutis laxa type 2A (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	2
Autosomal recessive cutis laxa type 2A (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	4
Autosomal recessive cutis laxa type 2A (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2A (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Autosomal recessive cutis laxa type 2A (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2A (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive cutis laxa type 2A (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3763865018	ARCL2A - autosomal recessive cutis laxa type 2A	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763866017	Autosomal recessive cutis laxa type 2A (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763867014	Autosomal recessive cutis laxa type 2A	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3763868016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5524121000172119	cutis laxa autosomique récessive de type 2A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5524131000172116	dermatolysie autosomique récessive de type 2A	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5524141000172111	ARCL2A - autosomal recessive cutis laxa type 2A	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5524111000172112	autosomaal recessieve cutis laxa type 2A	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)