722675000: Laryngo-onycho-cutaneous syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Abnormal granulation tissue\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa\Laryngo-onycho-cutaneous syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3333363016 Laryngo-onycho-cutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3333364010 Laryngo-onycho-cutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3333365011 LOC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3333366012 LOGIC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3333367015 Laryngoonychocutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3333368013 Shabbir syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3333370016 LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3897601000052115 laryngoonykokutant syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	Abnormal granulation tissue	true	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	Congenital junctional epidermolysis bullosa	true	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Laryngo-onycho-cutaneous syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	7
Laryngo-onycho-cutaneous syndrome (disorder)	Associated morphology	Hypertrophic granulation tissue	false	Inferred relationship	Some	7
Laryngo-onycho-cutaneous syndrome (disorder)	Associated morphology	Epidermolysis	false	Inferred relationship	Some	5
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Laryngo-onycho-cutaneous syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Laryngo-onycho-cutaneous syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Laryngo-onycho-cutaneous syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Laryngo-onycho-cutaneous syndrome (disorder)	Associated morphology	Hypertrophic granulation tissue	true	Inferred relationship	Some	1
Laryngo-onycho-cutaneous syndrome (disorder)	Associated morphology	Epidermolysis	true	Inferred relationship	Some	2

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
3333363016	Laryngo-onycho-cutaneous syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3333364010	Laryngo-onycho-cutaneous syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3333365011	LOC syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3333366012	LOGIC syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3333367015	Laryngoonychocutaneous syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3333368013	Shabbir syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3333370016	LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3897601000052115	laryngoonykokutant syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)