733466005: Camptodactyly taurinuria syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Deformity (finding)\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of body product\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Deformity of limb (finding)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Deformity of limb (finding)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of finger\Finding of musculoskeletal structure of finger\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of finger\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Urine finding\Finding of urine substance level\Urine substance level above reference range (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Urine finding\Abnormal urinary product (finding)\Aciduria (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of amino acid level (finding)\Amino acid above reference range\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Finding of substance level (finding)\Finding of urine substance level\Urine substance level above reference range (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Measurement finding outside reference range\Measurement finding above reference range\...
• \Urine substance level above reference range (finding)\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Amino acid above reference range\Aminoaciduria (finding)\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inherited aminoaciduria\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)\A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3500007015	A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499487014	Camptodactyly taurinuria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499488016	Camptodactyly taurinuria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499489012	Familial streblodactyly with amino-aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5491481000241117	syndrome de camptodactylie et taurinurie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424411001000119	Kamptodaktylie-Taurinurie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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