725097006: Crisponi syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Crisponi syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Crisponi syndrome
\Deformity\Deformity of limb\Camptodactyly\Crisponi syndrome
\Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Deformity\Congenital deformity\Camptodactyly\Crisponi syndrome

\Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Crisponi syndrome
\Finding of limb structure\Deformity of limb\Camptodactyly\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Crisponi syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Crisponi syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Crisponi syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Cold-induced sweating syndrome\Crisponi syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crisponi syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Crisponi syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cold-induced sweating syndrome\Crisponi syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Cold-induced sweating syndrome\Crisponi syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Crisponi syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder\Cold-induced sweating syndrome\Crisponi syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder\Cold-induced sweating syndrome\Crisponi syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Crisponi syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Crisponi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Camptodactyly\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Camptodactyly\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Crisponi syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Crisponi syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3438506013 Crisponi syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3438507016 Crisponi syndrome en Synonym Active Case sensitive SNOMED CT core

3438508014 A severe disorder with characteristics of muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum and bilateral camptodactyly. Early in the neonatal period continuous hyperthermia develops (unrelated to infectious agents). Mutations in the CRLF1 gene are causative. Belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome. The disease is transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Crisponi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Crisponi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Crisponi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Crisponi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Crisponi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Crisponi syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Crisponi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Crisponi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Crisponi syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Crisponi syndrome	Finding site	Musculoskeletal structure of digit of hand	true	Inferred relationship	Some	2
Crisponi syndrome	Finding site	Finger structure	true	Inferred relationship	Some	1
Crisponi syndrome	Associated morphology	Flexion deformity	true	Inferred relationship	Some	2
Crisponi syndrome	Is a	Congenital anomaly of finger	true	Inferred relationship	Some
Crisponi syndrome	Associated morphology	Fixed flexion deformity	false	Inferred relationship	Some	2
Crisponi syndrome	Is a	Flexion deformity of hand	true	Inferred relationship	Some
Crisponi syndrome	Is a	Finding of musculoskeletal structure of digit of hand	true	Inferred relationship	Some
Crisponi syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Crisponi syndrome	Finding site	Musculoskeletal structure of digit	true	Inferred relationship	Some	5
Crisponi syndrome	Associated morphology	Fixed flexion deformity	true	Inferred relationship	Some	5
Crisponi syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Crisponi syndrome	Is a	Congenital deformity of hand	true	Inferred relationship	Some
Crisponi syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Crisponi syndrome	Is a	Camptodactyly	true	Inferred relationship	Some
Crisponi syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Crisponi syndrome	Is a	Cold-induced sweating syndrome	true	Inferred relationship	Some
Crisponi syndrome	Finding site	Autonomic nervous system structure	true	Inferred relationship	Some	4
Crisponi syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Crisponi syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Crisponi syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Crisponi syndrome	Finding site	Face structure	false	Inferred relationship	Some	6
Crisponi syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Crisponi syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Crisponi syndrome	Finding site	Finger structure	false	Inferred relationship	Some	5
Crisponi syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Some	7
Crisponi syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3438506013	Crisponi syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3438507016	Crisponi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3438508014	A severe disorder with characteristics of muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Since the first description of the disease in 1996, it has been described in less than 30 patients from 13 Italian (mainly Sardinian) families. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum and bilateral camptodactyly. Early in the neonatal period continuous hyperthermia develops (unrelated to infectious agents). Mutations in the CRLF1 gene are causative. Belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and Stüve-Wiedemann syndrome. The disease is transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core