763774001: Keipert syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Keipert syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Keipert syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Keipert syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Keipert syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Keipert syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Keipert syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keipert syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Keipert syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Keipert syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Keipert syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Keipert syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keipert syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Keipert syndrome

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

\Congenital hearing disorder\Congenital sensorineural hearing loss\Keipert syndrome

\Hearing loss\Hearing loss associated with syndrome\Keipert syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Keipert syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Keipert syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Keipert syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Keipert syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Keipert syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Keipert syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Keipert syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Keipert syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Keipert syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Keipert syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Keipert syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Keipert syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Keipert syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Keipert syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Keipert syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Keipert syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Keipert syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Keipert syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Keipert syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Disorder of head\Disorder of ear\Keipert syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Keipert syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Keipert syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Keipert syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Keipert syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Keipert syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Keipert syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643795014 Keipert syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3643796010 Nasodigitoacoustic syndrome en Synonym Active Case insensitive SNOMED CT core

3643797018 Keipert syndrome en Synonym Active Case sensitive SNOMED CT core

3643798011 A rare multiple congenital anomalies syndrome with characteristics of facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keipert syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Keipert syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Keipert syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Keipert syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Keipert syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Keipert syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Keipert syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Keipert syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Keipert syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Keipert syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Keipert syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Keipert syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Keipert syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Keipert syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Keipert syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Keipert syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Keipert syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Keipert syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Keipert syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Keipert syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Keipert syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Keipert syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Keipert syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Keipert syndrome	Finding site	Ear structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643795014	Keipert syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3643796010	Nasodigitoacoustic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3643797018	Keipert syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3643798011	A rare multiple congenital anomalies syndrome with characteristics of facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	en	Definition	Active	Case sensitive	SNOMED CT core