722281001: Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Disorder of head (disorder)\Congenital anomaly of head\...

\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331419018 Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331420012 Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331421011 Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331422016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331423014 This syndrome combines agammaglobulinaemia 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 agammaglobulinaemia due to a defect in early B-cell maturation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3915821000052112 syndrom med agammaglobulinemi, mikrocefali, kraniosynostos och svår dermatit sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	mikrocefali	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Congenital agammaglobulinemia	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Inflammatory dermatosis (disorder)	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	6
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	6
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	7
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	7
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	inflammation	false	Inferred relationship	Some	5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	inflammation	false	Inferred relationship	Some	2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Inflammation of specific body organs	false	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3331419018	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331420012	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331421011	Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331422016	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331423014	This syndrome combines agammaglobulinaemia 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 agammaglobulinaemia due to a defect in early B-cell maturation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3915821000052112	syndrom med agammaglobulinemi, mikrocefali, kraniosynostos och svår dermatit	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)