Hennekam Beemer syndrome 722453009
SNOMED CT code
| SNOMED code | 722453009 |
|---|---|
| name | Hennekam Beemer syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Associated morphology | Congenital smallness 41086002 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Head structure 69536005 |
| attributes - group8 | |
| Interprets | Height / growth measure 271603002 |
| Has interpretation | Below reference range 281300000 |
| attributes - group7 | |
| Associated morphology | Cutaneous mastocytosis 703827008 |
| Finding site | Skin structure 39937001 |
| attributes - group6 | |
| Interprets | Birth head circumference 169876006 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Associated morphology | Mast cell abnormality 397017008 |
| Pathological process | Abnormal immune process 769247005 |
| Finding site | Mast cell 6445007 |
| attributes - group5 | |
| Has interpretation | Decreased 1250004 |
| Interprets | Hearing 47078008 |
| attributes - group3 | |
| Clinical course | Chronic 90734009 |
| attributes - group4 | |
| Finding site | Ear structure 117590005 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of ear 128297008 Chronic deafness 232325008 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of skin 128236002 Cutaneous mastocytosis 397012002 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of blood, lymphatics and immune system 299691001 Disorder of cellular component of blood 414022008 White blood cell disorder 54097007 Hereditary white blood cell disorder 414395005 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of sensory organ 1279550006 Disorder of ear 25906001 Conductive hearing loss 44057004 Hennekam Beemer syndrome 722453009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Hennekam Beemer syndrome 722453009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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