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722675000: Laryngo-onycho-cutaneous syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3333364010 Laryngo-onycho-cutaneous syndrome en Synonym Active Case insensitive SNOMED CT core

3333365011 LOC syndrome en Synonym Active Case sensitive SNOMED CT core

3333366012 LOGIC syndrome en Synonym Active Case sensitive SNOMED CT core

3333367015 Laryngoonychocutaneous syndrome en Synonym Active Case insensitive SNOMED CT core

3333368013 Shabbir syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
LOC syndrome	Finding site	Skin structure	true	Inferred relationship	Some	1
LOC syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
LOC syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
LOC syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
LOC syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
LOC syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
LOC syndrome	Associated morphology	Hypertrophic granulation tissue	true	Inferred relationship	Some	1
LOC syndrome	Associated morphology	Epidermolysis	true	Inferred relationship	Some	2
LOC syndrome	Is a	Abnormal granulation tissue	true	Inferred relationship	Some
LOC syndrome	Is a	Congenital junctional epidermolysis bullosa	true	Inferred relationship	Some
LOC syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
LOC syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
LOC syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
LOC syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Some
LOC syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
LOC syndrome	Finding site	Skin structure	false	Inferred relationship	Some	5
LOC syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
LOC syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
LOC syndrome	Finding site	Skin structure	false	Inferred relationship	Some	6
LOC syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
LOC syndrome	Finding site	Skin structure	false	Inferred relationship	Some	7
LOC syndrome	Associated morphology	Hypertrophic granulation tissue	false	Inferred relationship	Some	7
LOC syndrome	Associated morphology	Epidermolysis	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3333363016	Laryngo-onycho-cutaneous syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3333364010	Laryngo-onycho-cutaneous syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3333365011	LOC syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3333366012	LOGIC syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3333367015	Laryngoonychocutaneous syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3333368013	Shabbir syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core