67817003: syndroom van pili torti en doofheid (aandoening)

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

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

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

\Hair finding\Disorder of hair\...

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

\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

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

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

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

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Pili torti-deafness syndrome
\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\Pili torti-deafness syndrome
\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
\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\Pili torti-deafness syndrome
\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\Pili torti-deafness syndrome
\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\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin 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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

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

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	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of auditory system	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Multisystem disorder A-B	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Pili torti	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Congenital anomaly of nail	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Auditory pathway structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	structuur van unguis (lichaamsstructuur)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Pili torti-deafness syndrome	Associated morphology	Tortuosity	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Pili torti-deafness syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Is a	Disorder of nervous system (disorder)	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	structuur van gehoorbaan (lichaamsstructuur)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	4
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	4
Pili torti-deafness syndrome	Is a	Neurological lesion	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Finding of lesion (finding)	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of inner ear	false	Inferred relationship	Some
Pili torti-deafness syndrome	Interprets	Ability to hear	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Inner ear structure (body structure)	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Interprets	Hearing	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Pili torti-deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Pili torti-deafness syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Finding site	Hair structure (body structure)	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Interprets	observatie betreffende functioneren	false	Inferred relationship	Some
Pili torti-deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Finding site	Hair shaft structure (body structure)	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Associated morphology	Flattening deformity	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	2
Pili torti-deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Pili torti-deafness syndrome	Is a	Genetic defect of hair shaft (disorder)	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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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
6528961000146112	Björnstad-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6528981000146116	syndroom van Björnstad	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6886931000146110	syndroom van pili torti en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6886941000146119	syndroom van pili torti en doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)