Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005
SNOMED CT code
| SNOMED code | 723830005 |
|---|---|
| name | Keratosis follicularis, dwarfism, cerebral atrophy syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) |
| synonyms | Keratosis follicularis, dwarfism, cerebral atrophy syndrome |
| attributes - group1 | |
| Finding site | Cerebrum 83678007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Atrophy 13331008 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Associated morphology | Follicular hyperkeratosis 81845009 |
| Finding site | Hair follicle structure 67290009 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Acantholysis 43327007 |
| Occurrence | Congenital 255399007 |
| Finding site | Skin structure 39937001 |
| attributes - group5 | |
| Interprets | Height / growth measure 271603002 |
| attributes - group3 | |
| Has interpretation | Abnormal 263654008 |
| Interprets | Keratinization 44138005 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Disorder of keratinization 277905003 Follicular keratosis 238625005 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Hereditary acantholytic dermatosis 254217002 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Cerebral degeneration 418143002 Cerebral atrophy 278849000 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 Congenital anomaly of cerebrum 702628006 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Congenital degeneration of nervous system 95477007 Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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