773667003: Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)

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

\Finding of head and neck region\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)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Hypertelorism\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
\Finding of head and neck region\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\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\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\Hearing finding (finding)\Hearing disorder\...

\Congenital hearing 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 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\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\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)
\Disease\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\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\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\Congenital disease (disorder)\Congenital hearing disorder\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

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

4206661000052111 syndrom med hypertelorism, preaurikulär sinus, punktfördjupningar och dövhet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Finding site	Preauricular region structure	true	Inferred relationship	Some	1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Hypertelorism	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Associated morphology	Preauricular sinus (morphologic abnormality)	true	Inferred relationship	Some	1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Preauricular fistula	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Finding site	Sphenoid bone structure	true	Inferred relationship	Some	2
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Disorder of ear	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
4206661000052111	syndrom med hypertelorism, preaurikulär sinus, punktfördjupningar och dövhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)