723367005: Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome

\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of connective tissue\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Metabolic disease\Metabolic disease of collagen\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Congenital disease\Congenital connective tissue disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Collagen and elastic tissue disorders affecting skin\Cutis laxa\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutis laxa\Cutis laxa, autosomal recessive\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Macrocephaly, alopecia, cutis laxa, scoliosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3424260016 Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3424261017 Macrocephaly, alopecia, cutis laxa, scoliosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3424262012 MACS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3424263019 MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3424264013 RIN2 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

3424265014 Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Inherited cutis laxa	false	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Existential restriction modifier	1
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Cutis laxa, autosomal recessive	true	Inferred relationship	Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	Is a	Congenital anomaly of skin	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3424260016	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3424261017	Macrocephaly, alopecia, cutis laxa, scoliosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3424262012	MACS syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424263019	MACS (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424264013	RIN2 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3424265014	Tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module