778006008: Autosomal dominant aplasia and myelodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia

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

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia

\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Complete deafness\Congenital deafness\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Disorder of head\Disorder of ear\Disorder of inner ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Congenital disease\Congenital hearing disorder\Congenital deafness\Autosomal dominant aplasia and myelodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant aplasia and myelodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Autosomal dominant aplasia and myelodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of inner ear\Autosomal dominant aplasia and myelodysplasia

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3736387018 Autosomal dominant aplasia and myelodysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3736388011 Autosomal dominant aplasia and myelodysplasia en Synonym Active Case insensitive SNOMED CT core

3736389015 Autosomal dominant aplastic anaemia and myelodysplasia en Synonym Active Case insensitive SNOMED CT core

3736390012 Autosomal dominant aplastic anemia and myelodysplasia en Synonym Active Case insensitive SNOMED CT core

3736391011 A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. en Definition Active Case sensitive SNOMED CT core

3736392016 A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant aplasia and myelodysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia	Finding site	Bone marrow structure	true	Inferred relationship	Some	1
Autosomal dominant aplasia and myelodysplasia	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant aplasia and myelodysplasia	Is a	Bone marrow disorder	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia	Is a	Congenital deafness	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia	Finding site	Inner ear structure	true	Inferred relationship	Some	2
Autosomal dominant aplasia and myelodysplasia	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia	Is a	Congenital anomaly of inner ear	true	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia	Interprets	Hearing	true	Inferred relationship	Some	3
Autosomal dominant aplasia and myelodysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3736387018	Autosomal dominant aplasia and myelodysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3736388011	Autosomal dominant aplasia and myelodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3736389015	Autosomal dominant aplastic anaemia and myelodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3736390012	Autosomal dominant aplastic anemia and myelodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3736391011	A rare genetic haematologic disorder characterised by bone marrow failure which manifests with aplastic anaemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	en	Definition	Active	Case sensitive	SNOMED CT core
3736392016	A rare genetic hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Caused by heterozygous mutation in the SRP72 gene on chromosome 4q12.	en	Definition	Active	Case sensitive	SNOMED CT core