1271009: Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)

\Mass of body structure\Mass of soft tissue\Mass of skin\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
\Mass of body structure\Mass of body region\Mass of skin\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
\Mass of body structure\Mass of body region\Lump on extremities\Mass of upper limb\Mass of hand\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome

\Color finding\Finding of color of nails\Nail discoloration\Leukonychia\Congenital leukonychia\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome

Descriptions:

Id Description Lang Type Status Case? Module

3245015 Bart-Pumphrey syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

4635950018 Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4635951019 Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Congenital leukonychia	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Knuckle pads	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Congenital anomaly of joint	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Inherited disorder of keratinization	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Disorder of digit	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Nodule	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Structure of soft tissue	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Pad	false	Inferred relationship	Existential restriction modifier	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Musculoskeletal structure of finger	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Pad	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Pad	true	Inferred relationship	Existential restriction modifier	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Multisystem disorder	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Interprets	Color of nail	true	Inferred relationship	Existential restriction modifier	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure of part of digit of hand	true	Inferred relationship	Existential restriction modifier	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Nail unit structure	true	Inferred relationship	Existential restriction modifier	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Skin appendage structure	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Keratosis	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Genetic disorder of nail	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Structure of auditory system	false	Inferred relationship	Existential restriction modifier	6
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Hereditary diffuse palmoplantar keratoderma	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Is a	Rough skin of hands	true	Inferred relationship	Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	7
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	7
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Existential restriction modifier	6
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	6
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Finding site	Entire skin of sole of foot	true	Inferred relationship	Existential restriction modifier	8
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	8

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3245015	Bart-Pumphrey syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4635950018	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4635951019	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module