Code System Concept

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Code System Concept

Code System Concept Code	722675000
Code System Concept Name	Laryngo-onycho-cutaneous syndrome (disorder)
Code System Preferred Concept Name	Laryngo-onycho-cutaneous syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3333364010	Laryngo-onycho-cutaneous syndrome	Active	Synonym	false	false
3333365011	LOC syndrome	Active	Synonym	false	false
3333366012	LOGIC syndrome	Active	Synonym	false	false
3333367015	Laryngoonychocutaneous syndrome	Active	Synonym	false	false
3333368013	Shabbir syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Abnormal granulation tissue (disorder) {31825002 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital junctional epidermolysis bullosa (disorder) {79855003 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,