Autosomal recessive hereditary disorder
Congenital agammaglobulinemia
Congenital anomaly of skin
Congenital microcephaly
Craniosynostosis syndrome
Developmental hereditary disorder
Hereditary disorder of immune system
Hereditary disorder of musculoskeletal system
Hereditary disorder of the integument
Inflammatory dermatosis
Intellectual disability
Multiple system malformation syndrome
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Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.
syndroom van agammaglobulinemie, microcefalie, craniosynostose en ernstige dermatitis
Id722281001
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital premature fusion
Finding siteJoint structure of suture of skull
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyInflammatory morphology
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Pathological processAbnormal immune process
Has interpretationBelow reference range
InterpretsBirth head circumference
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified