773667003: syndroom van hypertelorisme, pre-auriculaire sinus, punctale fistels en doofheid (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Hearing loss\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Hearing loss\Hearing loss associated with syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital hearing loss (disorder)\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Preauricular fistula\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725585011	Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725586012	Hypertelorism, preauricular sinus, punctual pits, deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725587015	HPPD (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725588013	Hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6290151000146111	HPPD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6972821000146117	syndroom van hypertelorisme, pre-auriculaire sinus, punctale fistels en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6972831000146115	syndroom van hypertelorisme, pre-auriculaire sinus, punctale fistels en doofheid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9723331000146117	syndroom van hypertelorisme, pre-auriculaire fistel, punctale fistels en doofheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3725589017	A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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