67817003: Pili torti-deafness syndrome (disorder)

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

\Deformity (finding)\Deformity of tissue\Congenital deformity of soft tissue\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of soft tissue\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\...

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

\General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness 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\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Pili torti-deafness syndrome (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Pili torti-deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Pili torti-deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pili torti-deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness 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\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Pili torti-deafness syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti (disorder)\Pili torti-deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pili torti-deafness syndrome (disorder)	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Disorder of auditory system	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Multisystem disorder A-B	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Pili torti (disorder)	true	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Congenital anomaly of nail	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Finding site	Auditory pathway structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Neglestruktur	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Associated morphology	Atrophy (morphologic abnormality)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Associated morphology	Tortuosity	true	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Is a	multisystemsygdom	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Is a	Disorder of nervous system (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Finding site	struktur af hørebane	false	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	4
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	4
Pili torti-deafness syndrome (disorder)	Is a	Neurological lesion	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Finding of lesion	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Disorder of inner ear	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Interprets	Ability to hear	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Finding site	Inner ear structure	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Interprets	Hearing	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Interprets	træk vedr. funktion	false	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pili torti-deafness syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Pili torti-deafness syndrome (disorder)	Finding site	Hair shaft structure	true	Inferred relationship	Some	4
Pili torti-deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Pili torti-deafness syndrome (disorder)	Associated morphology	Flattening deformity	true	Inferred relationship	Some	4
Pili torti-deafness syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Pili torti-deafness syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Pili torti-deafness syndrome (disorder)	Is a	Genetic defect of hair shaft (disorder)	true	Inferred relationship	Some

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
112647012	Pili torti-deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112648019	Bjornstad's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
807583018	Pili torti-deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1793861000005114	Pili torti-døvhedssyndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)